Talk:2011 Group Project 9

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Group 9: User:z3331469 | User:z3331556 | User:z3332178 | User:z3332183


--Mark Hill 07:35, 30 September 2011 (EST) Currently all students originally assigned to each group are listed as equal authors/contributors to their project. If you have not contributed the content you had originally agreed to, nor participated in the group work process, then you should contact the course coordinator immediately and either discuss your contribution or request removal from the group author list. Remember that all student online contributions are recorded by date, time and the actual contributed content. A similar email reminder will be sent to all current students.

Please note the Universities Policy regarding Plagiarism

In particular this example:

"Claiming credit for a proportion of work contributed to a group assessment item that is greater than that actually contributed;"

Academic Misconduct carries penalties. If a student is found guilty of academic misconduct, the penalties include warnings, remedial educative action, being failed in an assignment or excluded from the University for two years.

2011 Projects: Turner Syndrome | DiGeorge Syndrome | Klinefelter's Syndrome | Huntington's Disease | Fragile X Syndrome | Tetralogy of Fallot | Angelman Syndrome | Friedreich's Ataxia | Williams-Beuren Syndrome | Duchenne Muscular Dystrolphy | Cleft Palate and Lip

Hey, i've got no problem with that, i think it's a fair idea

--z3331469 19:06, 18 September 2011 (EST)

Hey guys ive been thinking that epidemiology isn't really in the right spot.... management and treatment should really go after all the descriptions of the abnormalities and incidence shoukd go at the beginning... so what i'm thinking is that we should split up the subheading and add incidence to the intro and have management and treatment as one heading towards the end...??? what do u guys suggest?

--z3331556 23:20, 17 September 2011 (EST)

Hey guys i found this really good article that deals with embryology in WS!! but i don't know where the info fits in...can u please have a quick glance over it and see where you think some of the info can go??? i just don't wanna mess up your parts by adding random info...

--z3331556 17:36, 14 September 2011 (EST)

Yay!!! Yeah thats fine...were just gonna fix our ones up...coz we have another assignment to do you n nobby can edit all u want tonight! Ohh and yeah sure...just post up the info you have for the timeline n then ill put it into a table!!

Hey, yeh no worries, im going to be working on it for the rest of the day now that my exams are over....i ll try get as much of it done ASAP. Oh and after i finish typing up the timeline, would one of u guys format it in a table for me??? i seriously tried to do it but I got a bit confused lol Oh btw great job on the drawings!!! :)

--z3331556 13:54, 14 September 2011 (EST)

Hey sister 1 can you work on cardiac? I'll do other associated instead of sister 3.

--Z3332178 10:42, 14 September 2011 (EST)

and also, i just came across this page which is on the unsw embryo page....

it lists some recent papers and current research, including one of steve palmer's papers.

--z3331469 08:31, 14 September 2011 (EST)

hey guys, yes moving epidemiology up is a great idea!!!!

--z3331469 07:25, 14 September 2011 (EST) article for the visuospatial construction i.e. not able to draw house, bicycle etc, think this can be for our case studies...

yes i think that's a good idea, i was just about to mention that, shall i move it?? I fixed up a bit of the intro, is it ok? Btw I sware i thought i was on another page when i hit save cause all these tables and images came up, then i realised it was laticia and felicia's AWSOME WORK :), it looks really good!!! just thought i should mention that... I've spent hours trying to find images and most of the articles i've found have really good ones but we cant use them!! ahhh it's soo frustrating

--z3331556 23:58, 11 September 2011 (EST)

Also, in Marks feedback he said that epidemology should be linked earlier to diagnosis, so shall we just move it up and have it straight after diagnosis before the physical characteristics? --z3332183 23:14, 11 September 2011 (EST) Hey guys...heres another open access article that we can use pics from!!!

--z3332183 22:48, 11 September 2011 (EST)

i think we can all use this article --z3331556 22:06, 11 September 2011 (EST) pretty good recent article :) but i don't know if we can use the pics, can someone double check...

--z3331556 21:46, 11 September 2011 (EST)

[1] Clinical and molecular cytogenetic (FISH) diagnosis of Williams syndrome.

--z3332183 13:34, 7 September 2011 (EST)

Hey guys found this AWESOME article we can get pics off =D Leftward Lateralization of Auditory Cortex Underlies Holistic Sound Perception in Williams Syndrome PMID: 20808792 (forgot how to ref so this'll do for now)

--z3332178 22:51, 8 September 2011 (EST)

Hey! Yeah it think its better if they just go under the same heading because they go together and its impossible to separate them yeah 'Genetic Factors and Etiology' should be fine...and we can add in any subheadings if we need em later... :D

--z3332183 19:54, 3 September 2011 (EST)

Hey guys i just changed the etiology, genetic factors/ cause headings, before we had genetic factors and etiology as separate headings with cause as a subheading below genetic factors and it didn't really make sense... so is it ok if we just have the heading 'Genetic Factors and Etiology'???

--z3331556 15:44, 3 September 2011 (EST)

Hey guys i just emailed Dr. Steve Palmer, will hope for a quick reply. Apparently he's taking the next lecture or something when we get back, but by then it will be too late, so it's best if we can arrange a meeting. Who wants to come with me to see him..........................................................................................=/

--z3331469 17:16, 1 September 2011 (EST)

Here's an article for diagnosis and management of the disease


Hey that's heaps good, we'll compare timetables tomorrow during the lab or something, this page is coming alongggggggggggg!

--z3331469 16:00, 31 August 2011 (EST)

Happy sister 1, you are awesome! I'll do Coronary artery stenosis, Pulmonary valve stenosis, Atrial septal defect, Ventricular septal defect if you didnt already start on any... I'm doin my williams research now so hopefully, i'll have my bit up tonight! *crosses fingers* I'm so sick of readin articles... =P Is there a time we can all go meet up with the WS proff?

--Z3332178 20:37, 30 August 2011 (EST)

Hey i found out who the researcher of WS at uni is, it's Dr Steve Palmer, here's his email, on the course outline it says that we have to make an appointment if we want to see him. We should try get together sometime this week or next week so we can go see him and ask about his current research???

--z3331556 18:51, 27 August 2011 (EST)

So i finally figured out how to reference on this thing, thought you guys might need help.... if you look on the main project page I've started to put some info up, so if you click on the edit button (on the side of each heading) the info and references come up, just copy and paste the ref name....blah blah part after your info BUT REPLACE THE PMID NUMBER WITH THE ONE YOU NEED FOR YOUR ARTICLE. When u save, the reference is automatically made in the reference heading at the bottom of the pages

Hope this makes sense lol

--z3331556 17:17, 27 August 2011 (EST)

Hey guys i've posted up some links to articles that may help in your research, they're on the reference list below. Oh and Felicia i think we should further split up the cardiovascular heading so we can research specific types and make them subheadings??? The OMIM clinical synopsis web page [3] has these as abnormalities associated with the heart:

Supravalvular aortic stenosis

Valvular aortic stenosis

Bicuspid aortic valve

Mitral valve prolapse

Mitral regurgitation

Coronary artery stenosis

Pulmonary valve stenosis

Atrial septal defect

Ventricular septal defect

which ones do you want to search???

--z3331556 15:22, 27 August 2011 (EST)

“The behavioral phenotype of Williams syndrome: A recognizable pattern of neurodevelopment” by Colleen A. Morris The review article concludes that a person with William syndrome share distinct cognitive and behavioural features. The phenotype of a typical patient will be due to the deleted genes of chromosome 7 q11.23.[4]

“Impaired geometric reorientation caused by genetic defect” by Laura Lakusta, Banchiamlack Dessalegn, and Barbara Landau By testing participants in a plain or single blue walled chamber, the study was able to show that William syndrome patients show a failure to reconstruct and use geometric representations of the chamber o find hidden objecs.[5] --z3332178 22:42, 9 August 2011 (EST)

Review Article: Research Review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype. [6]

Research Article: Elevated Ambulatory Blood Pressure in 20 Subjects With Williams Syndrome[7]

--z3331469 21:35, 10 August 2011 (EST)

--z3331469 13:19, 4 August 2011 (EST)

The genomic basis of the Williams - Beuren syndrome C Schubert. Cellular and Molecular Life Sciences. Basel: Apr 2009. Vol. 66, Iss. 7; p. 1178 [8]

--Z3332183 13:28, 4 August 2011 (EST)

J Hum Genet. 2009 Apr;54(4):193-8. Epub 2009 Mar 13. William's syndrome: gene expression is related to parental origin and regional coordinate control. Collette JC, Chen XN, Mills DL, Galaburda AM, Reiss AL, Bellugi U, Korenberg JR. Source

Division of Neurogenetics, Cedars-Sinai Medical Center and Departments of Human Genetics and Pediatrics, UCLA, Los Angeles, CA, USA.


William's syndrome (WS) features a spectrum of neurocognitive and behavioral abnormalities due to a rare 1.5 MB deletion that includes about 24-28 genes on chromosome band 7q11.23. Study of the expression of these genes from the single normal copy provides an opportunity to elucidate the genetic and epigenetic controls on these genes as well as their roles in both WS and normal brain development and function. We used quantitative RT-PCR to determine the transcriptional level of 14 WS gene markers in a cohort of 77 persons with WS and 48 normal controls. Results reported here: (1) show that the expression of the genes deleted in WS is decreased in some but not all cases, (2) demonstrate that the parental origin of the deletion contributes to the level of expression of GTF2I independently of age and gender and (3) indicate that the correlation of expression between GTF2I and some other genes in the WS region differs in WS subjects and normal controls, which in turn points toward a regulatory role for this gene. Interspecies comparisons suggest GTF2I may play a key role in normal brain development.

PMID:19282872[9] hey guys this is one of the articles i found but i've tried getting the whole article to read but sirius doesn't seem to have this particular volume

--z3331556 18:09, 6 August 2011 (EST)

Review Article:The genomic basis of the Williams – Beuren syndrome •Williams syndrome is a genomic disorder with symptoms including mental retardation, visuospatial impairment & overfriendliness.

•It is caused due to a hemizygous contiguous gene deletion with regards to chromosome 7q11.23.

•This review article deals with the genomic assembly of the region involved in Williams syndrome as well as the chromosomal mechanisms such as deletions and duplications and the consequences of these.

Reference: Schubert, C. The genomic basis of the Williams – Beuren syndrome. Cell, Mol. Life Sci. 66:1178-1197, 2009 [10]

Research Article: Functional, structural and metabolic abnormalities of the hippocampl formation in Williams syndrome •In this study, neuroimaging (PET and fMRI) was used to investigate the hippocampal structure, function and metabolic integrity of 12 people with Williams syndrome compared to 12 healthy controls.

•N-acetul aspartate can be seen as a marker for synaptic activity and measures of this were reduced in those with Williams syndrome

•Although regular hippocampal size was maintained in both groups, slight changes in the shape were present.

•Through the results of the investigation, it was suggested that the neurocognitive abnormalities seen in Williams syndrome may be partly due to hippocampal dysfunction.

Reference: Meyer-Lindenberg A., et al. Functional, structural and metabolic abnormalities of the hippocampal formation in Williams syndrome. J Clin Invest. 115(7):1888-95, 2005 [11]

--z3332183 23:02, 9 August 2011 (EST)


PLoS One. 2010 Apr 21;5(4):e10292. Intelligence in Williams Syndrome is related to STX1A, which encodes a component of the presynaptic SNARE complex. Gao MC, Bellugi U, Dai L, Mills DL, Sobel EM, Lange K, Korenberg JR. Source

Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, California, United States of America.

Abstract Although genetics is the most significant known determinant of human intelligence, specific gene contributions remain largely unknown. To accelerate understanding in this area, we have taken a new approach by studying the relationship between quantitative gene expression and intelligence in a cohort of 65 patients with Williams Syndrome (WS), a neurodevelopmental disorder caused by a 1.5 Mb deletion on chromosome 7q11.23. We find that variation in the transcript levels of the brain gene STX1A correlates significantly with intelligence in WS patients measured by principal component analysis (PCA) of standardized WAIS-R subtests, r = 0.40 (Pearson correlation, Bonferroni corrected p-value = 0.007), accounting for 15.6% of the cognitive variation. These results suggest that syntaxin 1A, a neuronal regulator of presynaptic vesicle release, may play a role in WS and be a component of the cellular pathway determining human intelligence.

PMID:20422020 [12]

  • Williams Syndrome presents with a distinct pattern of intellectual disabilities that differ from normal on subtests of the WAIS-R (Wechsler Adult Intelligence Scale-Revised). Found that relative to their overall performance, WS subjects tended to do well in tests of vocabulary (Vocabulary) and abstract reasoning (Similarities, Picture Arrangement), and poorly in tests of numeracy (Arithmetic), visual-spatial (Digit Symbol, Block Design, Object Assembly), and memory (Digit Span)
  • Gene expression in the tissue of interest (brain) is not possible so quantitated gene expression in lymphoblastoid (LB) cell lines
  • STX1A is best known as an important component of the presynaptic SNARE complex involved in priming of synaptic vesicles for release.
  • Data indicate that peripheral STX1A expression levels measured in lymphoblastoid cell lines strictly grown, is related to an emergent property of the CNS, intelligence.

here's the actual article [13]


Arch Pediatr. 2009 Mar;16(3):273-82. Epub 2008 Dec 18. [Williams-Beuren syndrome: a multidisciplinary approach]. [Article in French] Lacroix A, Pezet M, Capel A, Bonnet D, Hennequin M, Jacob MP, Bricca G, Couet D, Faury G, Bernicot J, Gilbert-Dussardier B. Source

Laboratoire langage, mémoire et développement cognitif, CNRS, UMR 6215, 99, avenue du Recteur-Pineau, 86000 Poitiers, France.

Abstract Williams-Beuren syndrome (WBS) (OMIM# 194050) is a rare, most often sporadic, genetic disease caused by a chromosomal microdeletion at locus 7q11.23 involving 28 genes. Among these, the elastin gene codes for the essential component of the arterial extracellular matrix. Developmental disorders usually associate an atypical face, cardiovascular malformations (most often supravalvular aortic stenosis and/or pulmonary artery stenosis) and a unique neuropsychological profile. This profile is defined by moderate mental retardation, relatively well-preserved language skills, visuospatial deficits and hypersociability. Other less known or rarer features, such as neonatal hypercalcemia, nutrition problems in infancy, ophthalmological anomalies, hypothyroidism, growth retardation, joint disturbances, dental anomalies and hypertension arising in adolescence or adulthood, should be treated. The aim of this paper is to summarize the major points of WBS regarding: (i) the different genes involved in the deletion and their function, especially the elastin gene and recent reports of rare forms of partial WBS or of an opposite syndrome stemming from a microduplication of the 7q11.23 locus, (ii) the clinical features in children and adults with a focus on cardiovascular injury, and (iii) the specific neuropsychological profile of people with WBS through its characteristics, the brain structures involved, and learning.

PMID:19097873 [14]

--z3331556 19:40, 10 August 2011 (EST)

Here's the image i showed you guys

Distribution of quantitative transcription of genes deleted in WS

--z3331556 12:23, 12 August 2011 (EST)

Auditory Cortex Location - Comparison Between Control Subject and WS Subject.jpg

--z3331469 17:33, 16 August 2011 (EST)

The frequency of SD cells for RB1 and SNRPN in WS and control individuals.

The frequency of SD cells for RB1 and SNRPN in WS and control individuals

--z3332178 23:22, 16 August 2011 (EST)

I've found a good case study for WS, maybe we could have a case study sub-heading?? [15]

--z3331556 13:38, 17 August 2011 (EST)

Suggestions for areas of research

I thought I could get the ball rolling, let me know if you want to add or remove anything.


(z3331556) -What is William’s Syndrome?

History of the disease

(z3331556) -How it was discovered -Who discovered it? -Timeline of how knowledge developed


(z3332183) - Cause - Susceptibility of the patient


(z3332183) -How it’s detected (tests/examinations) -How soon it can be detected?

Genetic Factors

-deletions (all)

Physical Characteristics

-Facial characteristics etc. (z3332178)

Associated medical conditions

-Cardiac abnormalities (z3331556),(z3332178)

-Renal abnormalities (z3331469)

-other (hoarse voice, inguinal hernia, orthopaedic problems, hypercalcaemia etc.) (z3332183)

Cognitive, Behavioural and Neurological Problems



-Incidence, distribution, and control of disease (z3331469)


-Treatment of individual symptoms, avoid taking increased levels of calcium and Vitamin D (z3331469)

Specialized Facilities/ supportive associations

-Williams Syndrome Foundation (UK), Williams Syndrome Association (all)

Case studies

Interesting facts


Current research and developments



--z3331556 18:09, 17 August 2011 (EST)

--z3331556 13:09, 18 August 2011 (EST)

Williams Syndrome Foundation, accessed 22 August 2011,

Williams Syndrome Association, accessed 22 August 2011,

--z3331469 13:12, 22 August 2011 (EST) this is a clinical synopsis that is a good starting point for medical and physical abnormalities, it basically lists all complications associated with WS. I think we can use these as subheadings??? This is a source for cardiac abnormalities

These last two are basically introductory info on WS and they have info for the Genetics heading

--z3331556 15:44, 27 August 2011 (EST)

--z3331556 13:38, 1 September 2011 (EST) another good source

--z3331556 14:39, 3 September 2011 (EST)

Peer Assessments

  • Intro was good, it was brief and straight to the point
  • The beginning paragraphs of the history could be more summarised especially considering that you have a timeline beneath
  • Your use of a table for the genetics’ component was great. It was easy to read and concise. It was a different approach but it worked well.
  • More information could have been added to the treatment section such as comparisons between key methods/strategies, the pros and cons
  • The phenotype section was well set out although I believe it should have been placed up after the genetics section so that the information flows more consistently
  • The layout of the implications section was slightly unclear. Maybe here you could have large heading for implications, followed by a list (dot point) of the implications occurred then have in paragraph form a description of each. Having headings such as: Other problems and other associated medical conditions tended to drag on this segment.
  • The inclusion of the supportive associations was a nice little touch!
  • Great use of referencing

--Ashleigh Pontifex 15:30, 22 September 2011 (EST)