Williams Syndrome

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 ICD-11 - 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 (WS, Monosomy 7q11.23, 7q11.23 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).

Links: 2011 Student Project
Genetic Links: genetic abnormalities | maternal age | Trisomy 21 | Trisomy 18 | Trisomy 13 | Trisomy X | trisomy mosaicism | Monosomy | Fragile X | Williams | Alagille | Philadelphia chromosome | mitochondria | VACTERL | hydatidiform mole | epigenetics | Prenatal Diagnosis | Neonatal Diagnosis | meiosis | mitosis | International Classification of Diseases | genetics

Some Recent Findings

  • Perceptual learning in williams syndrome: looking beyond averages[1] "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[2] "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.
More recent papers
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Search term: Williams Syndrome

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


GTF2IRD1 Links

Growth Charts

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



Links: Growth Charts


  1. Gervan P, Gombos F & Kovacs I. (2012). Perceptual learning in Williams syndrome: looking beyond averages. PLoS ONE , 7, e40282. PMID: 22792262 DOI.
  2. Palmer SJ, Santucci N, Widagdo J, Bontempo SJ, Taylor KM, Tay ES, Hook J, Lemckert F, Gunning PW & Hardeman EC. (2010). Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism. J. Biol. Chem. , 285, 4715-24. PMID: 20007321 DOI.
  3. Martin ND, Smith WR, Cole TJ & Preece MA. (2007). New height, weight and head circumference charts for British children with Williams syndrome. Arch. Dis. Child. , 92, 598-601. PMID: 17301110 DOI.


Riby DM & Porter MA. (2010). Williams syndrome. Adv Child Dev Behav , 39, 163-209. PMID: 21189808

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


Morris CA. (2010). Introduction: Williams syndrome. Am J Med Genet C Semin Med Genet , 154C, 203-8. PMID: 20425781 DOI.

Pani AM, Hobart HH, Morris CA, Mervis CB, Bray-Ward P, Kimberley KW, Rios CM, Clark RC, Gulbronson MD, Gowans GC & Gregg RG. (2010). Genome rearrangements detected by SNP microarrays in individuals with intellectual disability referred with possible Williams syndrome. PLoS ONE , 5, e12349. PMID: 20824207 DOI.

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Cite this page: Hill, M.A. (2024, March 1) Embryology Williams Syndrome. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Williams_Syndrome

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