Williams Syndrome: Difference between revisions

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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.<ref><pubmed>17301110</pubmed>| [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2083767 PMC2083767]</ref>


'''Female'''
* [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2083767/figure/fig1 Height chart for females with Williams syndrome]
* [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2083767/figure/fig1 Height chart for females with Williams syndrome]
* [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2083767/figure/fig2 Weight chart for females with Williams syndrome]
* [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2083767/figure/fig3 Head circumference chart for females with Williams syndrome]
'''Male'''
* [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2083767/figure/fig4 Height chart for males with Williams syndrome]
* [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2083767/figure/fig5 Weight chart for males with Williams syndrome]
* [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2083767/figure/fig6 Head circumference chart for males with Williams syndrome]


== References ==
== References ==

Revision as of 13:18, 8 July 2011

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).

Some Recent Findings

  • Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism[1] "The 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.

General Transcription Factor II-I Repeat Domain-containing Protein 1

Mouse head (E9 and E12) TFII-I expression[2]

GTF2IRD1 Links


Growth Charts

The following data is from a paper producing a growth reference for British children with Williams syndrome.[3]

Female

Male

References

  1. <pubmed>20007321</pubmed>| PMC2836076 | J Biol Chem
  2. <pubmed>20642858</pubmed>| BMC Res Notes
  3. <pubmed>17301110</pubmed>| PMC2083767

Reviews

<pubmed>21189808</pubmed>

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Special Issue: Williams Syndrome 15 May 2010

Articles

<pubmed>20425781</pubmed> <pubmed>20824207</pubmed>

Search PubMed

Search Pubmed: Williams Syndrome | GTF2IRD1

External Links

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Cite this page: Hill, M.A. (2024, March 28) Embryology Williams Syndrome. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Williams_Syndrome

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