Williams Syndrome - Revision history

Z8600021 at 01:10, 3 Mayıs 2020

2020-05-03T01:10:23Z

← Older revision		Revision as of 12:10, 3 Mayıs 2020
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	{\|		{\|
	\|-bgcolor="FEF9E7"		\|-bgcolor="FEF9E7"
	! {{ICD-11}} - {{ICD11weblink}}1644383468]'''		! {{ICD-11}} - {{ICD11weblink}}1644383468 Williams-Beuren syndrome]'''
	:''Williams syndrome is a rare genetic disease characterised by a developmental disorder associating a cardiac malformation (most frequently supra valvular aortic stenosis, SVAS) in 75% of cases, psychomotor retardation, a characteristic facial dysmorphism and a specific cognitive and behavioural profile.''		:''Williams syndrome is a rare genetic disease characterised by a developmental disorder associating a cardiac malformation (most frequently supra valvular aortic stenosis, SVAS) in 75% of cases, psychomotor retardation, a characteristic facial dysmorphism and a specific cognitive and behavioural profile.''
	\|}		\|}
	==Introduction==		==Introduction==
	Williams syndrome (WS) is characterized by cardiovascular disease (elastin arteriopathy, peripheral pulmonary stenosis, supravalvular aortic stenosis, hypertension), distinctive facies, connective tissue abnormalities, mental retardation (usually mild), a specific cognitive profile, unique personality characteristics, growth abnormalities, and endocrine abnormalities (hypercalcemia, hypercalciuria, hypothyroidism, and early puberty).		Williams syndrome (WS, Monosomy {{Chr7}}q11.23, {{Chr7}}q11.23 deletion) is characterized by cardiovascular disease (elastin arteriopathy, peripheral pulmonary stenosis, supravalvular aortic stenosis, hypertension), distinctive facies, connective tissue abnormalities, mental retardation (usually mild), a specific cognitive profile, unique personality characteristics, growth abnormalities, and endocrine abnormalities (hypercalcemia, hypercalciuria, hypothyroidism, and early puberty).

Z8600021 at 01:08, 3 Mayıs 2020

2020-05-03T01:08:24Z

← Older revision		Revision as of 12:08, 3 Mayıs 2020
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	{\|		{\|
	\|-bgcolor="FEF9E7"		\|-bgcolor="FEF9E7"
	! {{ICD-11}} - {{ICD11weblink}}1644383468]		! {{ICD-11}} - {{ICD11weblink}}1644383468]'''
	:''Williams syndrome is a rare genetic disease characterised by a developmental disorder associating a cardiac malformation (most frequently supra valvular aortic stenosis, SVAS) in 75% of cases, psychomotor retardation, a characteristic facial dysmorphism and a specific cognitive and behavioural profile.''		:''Williams syndrome is a rare genetic disease characterised by a developmental disorder associating a cardiac malformation (most frequently supra valvular aortic stenosis, SVAS) in 75% of cases, psychomotor retardation, a characteristic facial dysmorphism and a specific cognitive and behavioural profile.''
	\|}		\|}

Z8600021 at 01:07, 3 Mayıs 2020

2020-05-03T01:07:58Z

← Older revision		Revision as of 12:07, 3 Mayıs 2020
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	{{Header}}		{{Header}}
	{\|		{\|
	\|-bgcolor="~~FFCC00~~"		\|-bgcolor="FEF9E7"
	! {{ICD-11}} - {{ICD11weblink}}1644383468]		! {{ICD-11}} - {{ICD11weblink}}1644383468]
	:''Williams syndrome is a rare genetic disease characterised by a developmental disorder associating a cardiac malformation (most frequently supra valvular aortic stenosis, SVAS) in 75% of cases, psychomotor retardation, a characteristic facial dysmorphism and a specific cognitive and behavioural profile.''		:''Williams syndrome is a rare genetic disease characterised by a developmental disorder associating a cardiac malformation (most frequently supra valvular aortic stenosis, SVAS) in 75% of cases, psychomotor retardation, a characteristic facial dysmorphism and a specific cognitive and behavioural profile.''

Z8600021 at 01:07, 3 Mayıs 2020

2020-05-03T01:07:35Z

← Older revision		Revision as of 12:07, 3 Mayıs 2020
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	{\|		{\|
	\|-bgcolor="FFCC00"		\|-bgcolor="FFCC00"
	! {{ICD-11}}		! {{ICD-11}} - {{ICD11weblink}}1644383468]
	\|-~~bgcolor="FEF9E7"~~		:''Williams syndrome is a rare genetic disease characterised by a developmental disorder associating a cardiac malformation (most frequently supra valvular aortic stenosis, SVAS) in 75% of cases, psychomotor retardation, a characteristic facial dysmorphism and a specific cognitive and behavioural profile.''
	\|
	\|}		\|}
	==Introduction==		==Introduction==

Z8600021 at 08:15, 8 March 2019

2019-03-08T08:15:58Z

← Older revision		Revision as of 19:15, 8 March 2019
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	==General Transcription Factor II-I Repeat Domain-containing Protein 1==		==General Transcription Factor II-I Repeat Domain-containing Protein 1==
	[[File:Mouse_head_TFII-I_expression_01.jpg\|thumb\|Mouse head (E9 and E12) TFII-I expression~~<ref><pubmed>~~20642858~~</pubmed>~~\| ~~[http://www.biomedcentral.com/1756-0500/3/203 BMC Res Notes]</ref>~~]]		[[File:Mouse_head_TFII-I_expression_01.jpg\|thumb\|Mouse head (E9 and E12) TFII-I expression{{#pmid:20642858\|PMID20642858]]

	=== GTF2IRD1 Links===		=== GTF2IRD1 Links===

Z8600021 at 08:14, 8 March 2019

2019-03-08T08:14:57Z

← Older revision		Revision as of 19:14, 8 March 2019
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	{{Header}}		{{Header}}
			{\|
			\|-bgcolor="FFCC00"
			! {{ICD-11}}
			\|-bgcolor="FEF9E7"
			\|
			\|}
	==Introduction==		==Introduction==
	Williams syndrome (WS) is characterized by cardiovascular disease (elastin arteriopathy, peripheral pulmonary stenosis, supravalvular aortic stenosis, hypertension), distinctive facies, connective tissue abnormalities, mental retardation (usually mild), a specific cognitive profile, unique personality characteristics, growth abnormalities, and endocrine abnormalities (hypercalcemia, hypercalciuria, hypothyroidism, and early puberty).		Williams syndrome (WS) is characterized by cardiovascular disease (elastin arteriopathy, peripheral pulmonary stenosis, supravalvular aortic stenosis, hypertension), distinctive facies, connective tissue abnormalities, mental retardation (usually mild), a specific cognitive profile, unique personality characteristics, growth abnormalities, and endocrine abnormalities (hypercalcemia, hypercalciuria, hypothyroidism, and early puberty).
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	* '''Perceptual learning in williams syndrome: looking beyond averages'''~~<ref><pubmed>~~22792262~~</pubmed></ref>~~ "Williams Syndrome is a genetically determined neurodevelopmental disorder characterized by an uneven cognitive profile and surprisingly large neurobehavioral differences among individuals. Previous studies have already shown different forms of memory deficiencies and learning difficulties in WS. Here we studied the capacity of WS subjects to improve their performance in a basic visual task. We employed a contour integration paradigm that addresses occipital visual function, and analyzed the initial (i.e. baseline) and after-learning performance of WS individuals. Instead of pooling the very inhomogeneous results of WS subjects together, we evaluated individual performance by expressing it in terms of the deviation from the average performance of the group of typically developing subjects of similar age. This approach helped us to reveal information about the possible origins of poor performance of WS subjects in contour integration. Although the majority of WS individuals showed both reduced baseline and reduced learning performance, individual analysis also revealed a dissociation between baseline and learning capacity in several WS subjects. In spite of impaired initial contour integration performance, some WS individuals presented learning capacity comparable to learning in the typically developing population, and vice versa, poor learning was also observed in subjects with high initial performance levels. These data indicate a dissociation between factors determining initial performance and perceptual learning."		* '''Perceptual learning in williams syndrome: looking beyond averages'''{{#pmid:22792262\|PMID22792262}} "Williams Syndrome is a genetically determined neurodevelopmental disorder characterized by an uneven cognitive profile and surprisingly large neurobehavioral differences among individuals. Previous studies have already shown different forms of memory deficiencies and learning difficulties in WS. Here we studied the capacity of WS subjects to improve their performance in a basic visual task. We employed a contour integration paradigm that addresses occipital visual function, and analyzed the initial (i.e. baseline) and after-learning performance of WS individuals. Instead of pooling the very inhomogeneous results of WS subjects together, we evaluated individual performance by expressing it in terms of the deviation from the average performance of the group of typically developing subjects of similar age. This approach helped us to reveal information about the possible origins of poor performance of WS subjects in contour integration. Although the majority of WS individuals showed both reduced baseline and reduced learning performance, individual analysis also revealed a dissociation between baseline and learning capacity in several WS subjects. In spite of impaired initial contour integration performance, some WS individuals presented learning capacity comparable to learning in the typically developing population, and vice versa, poor learning was also observed in subjects with high initial performance levels. These data indicate a dissociation between factors determining initial performance and perceptual learning."
	* '''Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism'''~~<ref><pubmed>~~20007321~~</pubmed>\| [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2836076 PMC2836076]~~ \| ~~[http://www.jbc.org/content/285/7/4715.long J Biol Chem]</ref>~~ "The [http://omim.org/entry/604318 General Transcription Factor II-I Repeat Domain-containing Protein 1] (GTF2IRD1) gene is of principal interest to the study of Williams-Beuren syndrome (WBS). This neurodevelopmental disorder results from the hemizygous deletion of a region of chromosome 7q11.23 containing 28 genes including GTF2IRD1. WBS is thought to be caused by haploinsufficiency of certain dosage-sensitive genes within the deleted region, and the feature of supravalvular aortic stenosis (SVAS) has been attributed to reduced elastin caused by deletion of ELN. Human genetic mapping data have implicated two related genes GTF2IRD1 and GTF2I in the cause of some the key features of WBS, including craniofacial dysmorphology, hypersociability, and visuospatial deficits. Mice with mutations of the Gtf2ird1 allele show evidence of craniofacial abnormalities and behavioral changes. Here we show the existence of a negative autoregulatory mechanism that controls the level of GTF2IRD1 transcription via direct binding of the GTF2IRD1 protein to a highly conserved region of the GTF2IRD1 promoter containing an array of three binding sites. The affinity for this protein-DNA interaction is critically dependent upon multiple interactions between separate domains of the protein and at least two of the DNA binding sites. This autoregulatory mechanism leads to dosage compensation of GTF2IRD1 transcription in WBS patients. The GTF2IRD1 promoter represents the first established in vivo gene target of the GTF2IRD1 protein, and we use it to model its DNA interaction capabilities.
			* '''Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism'''{{#pmid:20007321\|PMID20007321}} "The [http://omim.org/entry/604318 General Transcription Factor II-I Repeat Domain-containing Protein 1] (GTF2IRD1) gene is of principal interest to the study of Williams-Beuren syndrome (WBS). This neurodevelopmental disorder results from the hemizygous deletion of a region of chromosome 7q11.23 containing 28 genes including GTF2IRD1. WBS is thought to be caused by haploinsufficiency of certain dosage-sensitive genes within the deleted region, and the feature of supravalvular aortic stenosis (SVAS) has been attributed to reduced elastin caused by deletion of ELN. Human genetic mapping data have implicated two related genes GTF2IRD1 and GTF2I in the cause of some the key features of WBS, including craniofacial dysmorphology, hypersociability, and visuospatial deficits. Mice with mutations of the Gtf2ird1 allele show evidence of craniofacial abnormalities and behavioral changes. Here we show the existence of a negative autoregulatory mechanism that controls the level of GTF2IRD1 transcription via direct binding of the GTF2IRD1 protein to a highly conserved region of the GTF2IRD1 promoter containing an array of three binding sites. The affinity for this protein-DNA interaction is critically dependent upon multiple interactions between separate domains of the protein and at least two of the DNA binding sites. This autoregulatory mechanism leads to dosage compensation of GTF2IRD1 transcription in WBS patients. The GTF2IRD1 promoter represents the first established in vivo gene target of the GTF2IRD1 protein, and we use it to model its DNA interaction capabilities.
	\|}		\|}
	{\| class="wikitable mw-collapsible mw-collapsed"		{\| class="wikitable mw-collapsible mw-collapsed"
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	Search term: [http://www.ncbi.nlm.nih.gov/pubmed/?term=Williams+Syndrome ''Williams Syndrome'']		Search term: [http://www.ncbi.nlm.nih.gov/pubmed/?term=Williams+Syndrome ''Williams Syndrome'']

	~~<pubmed limit=5>Williams Syndrome</pubmed>~~
	\|}		\|}

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	==Growth Charts==		==Growth Charts==

	The following data is from a paper producing a growth reference for British children with Williams syndrome.~~<ref><pubmed>~~17301110~~</pubmed>~~\| ~~[http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2083767 PMC2083767]</ref>~~		The following data is from a paper producing a growth reference for British children with Williams syndrome.{{#pmid:17301110\|PMID17301110}}

	'''Female'''		'''Female'''
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	===Reviews===		===Reviews===
	~~<pubmed>~~21189808~~</pubmed>~~		{{#pmid:21189808}}

	'''American Journal of Medical Genetics''' Part C: Seminars in Medical Genetics [http://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.v154c:2/issuetoc Special Issue: Williams Syndrome 15 May 2010]		'''American Journal of Medical Genetics''' Part C: Seminars in Medical Genetics [http://onlinelibrary.wiley.com/doi/10.1002/ajmg.c.v154c:2/issuetoc Special Issue: Williams Syndrome 15 May 2010]

	===Articles===		===Articles===
	~~<pubmed>~~20425781~~</pubmed>~~		{{#pmid:20425781}}
	~~<pubmed>~~20824207~~</pubmed>~~
			{{#pmid:20824207}}

	===Search PubMed===		===Search PubMed===

Z8600021 at 08:26, 29 September 2014

2014-09-29T08:26:50Z

← Older revision		Revision as of 19:26, 29 September 2014
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	* '''Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism'''<ref><pubmed>20007321</pubmed>\| [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2836076 PMC2836076] \| [http://www.jbc.org/content/285/7/4715.long J Biol Chem]</ref> "The [http://omim.org/entry/604318 General Transcription Factor II-I Repeat Domain-containing Protein 1] (GTF2IRD1) gene is of principal interest to the study of Williams-Beuren syndrome (WBS). This neurodevelopmental disorder results from the hemizygous deletion of a region of chromosome 7q11.23 containing 28 genes including GTF2IRD1. WBS is thought to be caused by haploinsufficiency of certain dosage-sensitive genes within the deleted region, and the feature of supravalvular aortic stenosis (SVAS) has been attributed to reduced elastin caused by deletion of ELN. Human genetic mapping data have implicated two related genes GTF2IRD1 and GTF2I in the cause of some the key features of WBS, including craniofacial dysmorphology, hypersociability, and visuospatial deficits. Mice with mutations of the Gtf2ird1 allele show evidence of craniofacial abnormalities and behavioral changes. Here we show the existence of a negative autoregulatory mechanism that controls the level of GTF2IRD1 transcription via direct binding of the GTF2IRD1 protein to a highly conserved region of the GTF2IRD1 promoter containing an array of three binding sites. The affinity for this protein-DNA interaction is critically dependent upon multiple interactions between separate domains of the protein and at least two of the DNA binding sites. This autoregulatory mechanism leads to dosage compensation of GTF2IRD1 transcription in WBS patients. The GTF2IRD1 promoter represents the first established in vivo gene target of the GTF2IRD1 protein, and we use it to model its DNA interaction capabilities.		* '''Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism'''<ref><pubmed>20007321</pubmed>\| [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2836076 PMC2836076] \| [http://www.jbc.org/content/285/7/4715.long J Biol Chem]</ref> "The [http://omim.org/entry/604318 General Transcription Factor II-I Repeat Domain-containing Protein 1] (GTF2IRD1) gene is of principal interest to the study of Williams-Beuren syndrome (WBS). This neurodevelopmental disorder results from the hemizygous deletion of a region of chromosome 7q11.23 containing 28 genes including GTF2IRD1. WBS is thought to be caused by haploinsufficiency of certain dosage-sensitive genes within the deleted region, and the feature of supravalvular aortic stenosis (SVAS) has been attributed to reduced elastin caused by deletion of ELN. Human genetic mapping data have implicated two related genes GTF2IRD1 and GTF2I in the cause of some the key features of WBS, including craniofacial dysmorphology, hypersociability, and visuospatial deficits. Mice with mutations of the Gtf2ird1 allele show evidence of craniofacial abnormalities and behavioral changes. Here we show the existence of a negative autoregulatory mechanism that controls the level of GTF2IRD1 transcription via direct binding of the GTF2IRD1 protein to a highly conserved region of the GTF2IRD1 promoter containing an array of three binding sites. The affinity for this protein-DNA interaction is critically dependent upon multiple interactions between separate domains of the protein and at least two of the DNA binding sites. This autoregulatory mechanism leads to dosage compensation of GTF2IRD1 transcription in WBS patients. The GTF2IRD1 promoter represents the first established in vivo gene target of the GTF2IRD1 protein, and we use it to model its DNA interaction capabilities.
	\|}		\|}
	{\| class="wikitable collapsible collapsed"		{\| class="wikitable mw-collapsible mw-collapsed"
	! More recent papers		! More recent papers
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Z8600021 at 12:22, 9 March 2014

2014-03-09T12:22:39Z

← Older revision		Revision as of 23:22, 9 March 2014
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	* '''Perceptual learning in williams syndrome: looking beyond averages'''<ref><pubmed>22792262</pubmed></ref> "Williams Syndrome is a genetically determined neurodevelopmental disorder characterized by an uneven cognitive profile and surprisingly large neurobehavioral differences among individuals. Previous studies have already shown different forms of memory deficiencies and learning difficulties in WS. Here we studied the capacity of WS subjects to improve their performance in a basic visual task. We employed a contour integration paradigm that addresses occipital visual function, and analyzed the initial (i.e. baseline) and after-learning performance of WS individuals. Instead of pooling the very inhomogeneous results of WS subjects together, we evaluated individual performance by expressing it in terms of the deviation from the average performance of the group of typically developing subjects of similar age. This approach helped us to reveal information about the possible origins of poor performance of WS subjects in contour integration. Although the majority of WS individuals showed both reduced baseline and reduced learning performance, individual analysis also revealed a dissociation between baseline and learning capacity in several WS subjects. In spite of impaired initial contour integration performance, some WS individuals presented learning capacity comparable to learning in the typically developing population, and vice versa, poor learning was also observed in subjects with high initial performance levels. These data indicate a dissociation between factors determining initial performance and perceptual learning."		* '''Perceptual learning in williams syndrome: looking beyond averages'''<ref><pubmed>22792262</pubmed></ref> "Williams Syndrome is a genetically determined neurodevelopmental disorder characterized by an uneven cognitive profile and surprisingly large neurobehavioral differences among individuals. Previous studies have already shown different forms of memory deficiencies and learning difficulties in WS. Here we studied the capacity of WS subjects to improve their performance in a basic visual task. We employed a contour integration paradigm that addresses occipital visual function, and analyzed the initial (i.e. baseline) and after-learning performance of WS individuals. Instead of pooling the very inhomogeneous results of WS subjects together, we evaluated individual performance by expressing it in terms of the deviation from the average performance of the group of typically developing subjects of similar age. This approach helped us to reveal information about the possible origins of poor performance of WS subjects in contour integration. Although the majority of WS individuals showed both reduced baseline and reduced learning performance, individual analysis also revealed a dissociation between baseline and learning capacity in several WS subjects. In spite of impaired initial contour integration performance, some WS individuals presented learning capacity comparable to learning in the typically developing population, and vice versa, poor learning was also observed in subjects with high initial performance levels. These data indicate a dissociation between factors determining initial performance and perceptual learning."
	* '''Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism'''<ref><pubmed>20007321</pubmed>\| [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2836076 PMC2836076] \| [http://www.jbc.org/content/285/7/4715.long J Biol Chem]</ref> "The [http://omim.org/entry/604318 General Transcription Factor II-I Repeat Domain-containing Protein 1] (GTF2IRD1) gene is of principal interest to the study of Williams-Beuren syndrome (WBS). This neurodevelopmental disorder results from the hemizygous deletion of a region of chromosome 7q11.23 containing 28 genes including GTF2IRD1. WBS is thought to be caused by haploinsufficiency of certain dosage-sensitive genes within the deleted region, and the feature of supravalvular aortic stenosis (SVAS) has been attributed to reduced elastin caused by deletion of ELN. Human genetic mapping data have implicated two related genes GTF2IRD1 and GTF2I in the cause of some the key features of WBS, including craniofacial dysmorphology, hypersociability, and visuospatial deficits. Mice with mutations of the Gtf2ird1 allele show evidence of craniofacial abnormalities and behavioral changes. Here we show the existence of a negative autoregulatory mechanism that controls the level of GTF2IRD1 transcription via direct binding of the GTF2IRD1 protein to a highly conserved region of the GTF2IRD1 promoter containing an array of three binding sites. The affinity for this protein-DNA interaction is critically dependent upon multiple interactions between separate domains of the protein and at least two of the DNA binding sites. This autoregulatory mechanism leads to dosage compensation of GTF2IRD1 transcription in WBS patients. The GTF2IRD1 promoter represents the first established in vivo gene target of the GTF2IRD1 protein, and we use it to model its DNA interaction capabilities.		* '''Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism'''<ref><pubmed>20007321</pubmed>\| [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2836076 PMC2836076] \| [http://www.jbc.org/content/285/7/4715.long J Biol Chem]</ref> "The [http://omim.org/entry/604318 General Transcription Factor II-I Repeat Domain-containing Protein 1] (GTF2IRD1) gene is of principal interest to the study of Williams-Beuren syndrome (WBS). This neurodevelopmental disorder results from the hemizygous deletion of a region of chromosome 7q11.23 containing 28 genes including GTF2IRD1. WBS is thought to be caused by haploinsufficiency of certain dosage-sensitive genes within the deleted region, and the feature of supravalvular aortic stenosis (SVAS) has been attributed to reduced elastin caused by deletion of ELN. Human genetic mapping data have implicated two related genes GTF2IRD1 and GTF2I in the cause of some the key features of WBS, including craniofacial dysmorphology, hypersociability, and visuospatial deficits. Mice with mutations of the Gtf2ird1 allele show evidence of craniofacial abnormalities and behavioral changes. Here we show the existence of a negative autoregulatory mechanism that controls the level of GTF2IRD1 transcription via direct binding of the GTF2IRD1 protein to a highly conserved region of the GTF2IRD1 promoter containing an array of three binding sites. The affinity for this protein-DNA interaction is critically dependent upon multiple interactions between separate domains of the protein and at least two of the DNA binding sites. This autoregulatory mechanism leads to dosage compensation of GTF2IRD1 transcription in WBS patients. The GTF2IRD1 promoter represents the first established in vivo gene target of the GTF2IRD1 protein, and we use it to model its DNA interaction capabilities.
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			{\| class="wikitable collapsible collapsed"
			! More recent papers
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			\| [[File:Mark_Hill.jpg\|90px\|left]] {{Most_Recent_Refs}}

			Search term: [http://www.ncbi.nlm.nih.gov/pubmed/?term=Williams+Syndrome ''Williams Syndrome'']

			<pubmed limit=5>Williams Syndrome</pubmed>
	\|}		\|}

Z8600021 at 12:20, 9 March 2014

2014-03-09T12:20:29Z

← Older revision		Revision as of 23:20, 9 March 2014
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			{{Header}}
	==Introduction==		==Introduction==
	Williams syndrome (WS) is characterized by cardiovascular disease (elastin arteriopathy, peripheral pulmonary stenosis, supravalvular aortic stenosis, hypertension), distinctive facies, connective tissue abnormalities, mental retardation (usually mild), a specific cognitive profile, unique personality characteristics, growth abnormalities, and endocrine abnormalities (hypercalcemia, hypercalciuria, hypothyroidism, and early puberty).		Williams syndrome (WS) is characterized by cardiovascular disease (elastin arteriopathy, peripheral pulmonary stenosis, supravalvular aortic stenosis, hypertension), distinctive facies, connective tissue abnormalities, mental retardation (usually mild), a specific cognitive profile, unique personality characteristics, growth abnormalities, and endocrine abnormalities (hypercalcemia, hypercalciuria, hypothyroidism, and early puberty).
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	:'''Links:''' [[2011_Group_Project_9\|2011 Student Project]]		:'''Links:''' [[2011_Group_Project_9\|2011 Student Project]]

			{{Genetic}}
	==Some Recent Findings==		==Some Recent Findings==
	{\|		{\|
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	==External Links==		==External Links==
	{{External Links}}		{{External Links}}


	* '''PubMed Health''' [http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002105 Williams Syndrome]		* '''PubMed Health''' [http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002105 Williams Syndrome]
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	{{Glossary}}		{{Glossary}}


	{{Footer}}		{{Footer}}


	[[Category:Genetics]] [[Category:Neural]] [[Category:Head]]		[[Category:Genetics]] [[Category:Neural]] [[Category:Head]]

Z8600021: /* Some Recent Findings */

2012-07-20T06:40:52Z

Some Recent Findings

← Older revision		Revision as of 17:40, 20 July 2012
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			* '''Perceptual learning in williams syndrome: looking beyond averages'''<ref><pubmed>22792262</pubmed></ref> "Williams Syndrome is a genetically determined neurodevelopmental disorder characterized by an uneven cognitive profile and surprisingly large neurobehavioral differences among individuals. Previous studies have already shown different forms of memory deficiencies and learning difficulties in WS. Here we studied the capacity of WS subjects to improve their performance in a basic visual task. We employed a contour integration paradigm that addresses occipital visual function, and analyzed the initial (i.e. baseline) and after-learning performance of WS individuals. Instead of pooling the very inhomogeneous results of WS subjects together, we evaluated individual performance by expressing it in terms of the deviation from the average performance of the group of typically developing subjects of similar age. This approach helped us to reveal information about the possible origins of poor performance of WS subjects in contour integration. Although the majority of WS individuals showed both reduced baseline and reduced learning performance, individual analysis also revealed a dissociation between baseline and learning capacity in several WS subjects. In spite of impaired initial contour integration performance, some WS individuals presented learning capacity comparable to learning in the typically developing population, and vice versa, poor learning was also observed in subjects with high initial performance levels. These data indicate a dissociation between factors determining initial performance and perceptual learning."
	* '''Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism'''<ref><pubmed>20007321</pubmed>\| [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2836076 PMC2836076] \| [http://www.jbc.org/content/285/7/4715.long J Biol Chem]</ref> "The [http://omim.org/entry/604318 General Transcription Factor II-I Repeat Domain-containing Protein 1] (GTF2IRD1) gene is of principal interest to the study of Williams-Beuren syndrome (WBS). This neurodevelopmental disorder results from the hemizygous deletion of a region of chromosome 7q11.23 containing 28 genes including GTF2IRD1. WBS is thought to be caused by haploinsufficiency of certain dosage-sensitive genes within the deleted region, and the feature of supravalvular aortic stenosis (SVAS) has been attributed to reduced elastin caused by deletion of ELN. Human genetic mapping data have implicated two related genes GTF2IRD1 and GTF2I in the cause of some the key features of WBS, including craniofacial dysmorphology, hypersociability, and visuospatial deficits. Mice with mutations of the Gtf2ird1 allele show evidence of craniofacial abnormalities and behavioral changes. Here we show the existence of a negative autoregulatory mechanism that controls the level of GTF2IRD1 transcription via direct binding of the GTF2IRD1 protein to a highly conserved region of the GTF2IRD1 promoter containing an array of three binding sites. The affinity for this protein-DNA interaction is critically dependent upon multiple interactions between separate domains of the protein and at least two of the DNA binding sites. This autoregulatory mechanism leads to dosage compensation of GTF2IRD1 transcription in WBS patients. The GTF2IRD1 promoter represents the first established in vivo gene target of the GTF2IRD1 protein, and we use it to model its DNA interaction capabilities.		* '''Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism'''<ref><pubmed>20007321</pubmed>\| [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2836076 PMC2836076] \| [http://www.jbc.org/content/285/7/4715.long J Biol Chem]</ref> "The [http://omim.org/entry/604318 General Transcription Factor II-I Repeat Domain-containing Protein 1] (GTF2IRD1) gene is of principal interest to the study of Williams-Beuren syndrome (WBS). This neurodevelopmental disorder results from the hemizygous deletion of a region of chromosome 7q11.23 containing 28 genes including GTF2IRD1. WBS is thought to be caused by haploinsufficiency of certain dosage-sensitive genes within the deleted region, and the feature of supravalvular aortic stenosis (SVAS) has been attributed to reduced elastin caused by deletion of ELN. Human genetic mapping data have implicated two related genes GTF2IRD1 and GTF2I in the cause of some the key features of WBS, including craniofacial dysmorphology, hypersociability, and visuospatial deficits. Mice with mutations of the Gtf2ird1 allele show evidence of craniofacial abnormalities and behavioral changes. Here we show the existence of a negative autoregulatory mechanism that controls the level of GTF2IRD1 transcription via direct binding of the GTF2IRD1 protein to a highly conserved region of the GTF2IRD1 promoter containing an array of three binding sites. The affinity for this protein-DNA interaction is critically dependent upon multiple interactions between separate domains of the protein and at least two of the DNA binding sites. This autoregulatory mechanism leads to dosage compensation of GTF2IRD1 transcription in WBS patients. The GTF2IRD1 promoter represents the first established in vivo gene target of the GTF2IRD1 protein, and we use it to model its DNA interaction capabilities.