latest news
  • Research update - anxiety interventions for children with a diagnosis of autism

    Researchers at Aston University are working with the Cerebra Network...

  • Mental health difficulties in Williams, Prader-Willi & fragile X syndromes


    A recent paper published in 2019 has described and...

  • Video Launch - Challenging Behaviour

    We have launched a new video on the factors that...

  • Mental health difficulties in children with learning disabilities

    Overview of the presentation

    This presentation was delivered by Chris...

Key Fact
Williams syndrome is caused by the deletion of genetic material at chromosome 7q11.23

‚ÄčGenetics of Williams Syndrome

Williams syndrome is caused by the deletion of 1.5-1.8 megabases (measurement of length) of genetic material at chromosome 7q11.23. Although there are several genes included in the deleted region of chromosome 7, no single gene has been identified as causing Williams syndrome.


Genes that are typically deleted include; Elastin, LIMK1, CLIP2, GTF2IRD1 AND GTF2I. 


Elastin is missing in 95-99% of individuals with Williams syndrome and therefore is the main gene used to genetically diagnose Williams syndrome. Elastin is a protein found in connective tissue which is important for connecting organs and tissues, and for storing nutrients. The loss of elastin is associated with connective tissue abnormalities and cardiovascular (heart) disease.


Download this page as a PDF