Khan lateef khan biography of williams syndrome

Thank you for visiting nature. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser or turn off compatibility mode in Internet Explorer. Williams syndrome WS is a relatively rare microdeletion disorder that occurs in as many as , individuals.

WS arises due to the mispairing of low-copy DNA repetitive elements at meiosis. The deletion size is similar across most individuals with WS and leads to the loss of one copy of 25—27 genes on chromosome 7q The resulting unique disorder affects multiple systems, with cardinal features including but not limited to cardiovascular disease characteristically stenosis of the great arteries and most notably supravalvar aortic stenosis , a distinctive craniofacial appearance, and a specific cognitive and behavioural profile that includes intellectual disability and hypersociability.

Patients with Williams syndrome

Genotype—phenotype evidence is strongest for ELN , the gene encoding elastin, which is responsible for the vascular and connective tissue features of WS, and for the transcription factor genes GTF2I and GTF2IRD1 , which are known to affect intellectual ability, social functioning and anxiety. The age of diagnosis has fallen in regions of the world where technological advances, such as chromosomal microarray, enable clinicians to make the diagnosis of WS without formally suspecting it, allowing earlier intervention by medical and developmental specialists.

Phenotypic variability is considerable for all cardinal features of WS but the specific sources of this variability remain unknown. Further investigation to identify the factors responsible for these differences may lead to mechanism-based rather than symptom-based therapies and should therefore be a high research priority. This is a preview of subscription content, access via your institution.

Beuren, A. Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance. Circulation 26 , —