Speech Affected by Duplication of the Williams-Beuren Locus
Kyle Pilkey is the first human found to have a duplication of a section of chromosome 7, 7q11.23. This particular area is also known as the Williams-Beuren locus, which is typically associated with WBS syndrome. WBS syndrome involves the cardiovascular system, cognitive function, and behavioral features.
Before the identification of this unique genetic abnormality, 9-year-old Kyle was misdiagnosed with attention-deficit disorder, Tourette’s syndrome and autism because his most prominent symptom was a delay in expressive speech. Researchers believe that up to 4,000 Canadians may have duplication of the Williams-Beuren locus. Sadly, they may also have been misdiagnosed and even institutionalized.
Now that the Pilkey family knows, they can begin treatments that are best for Kyle. He is learning sign language and is working on his writing skills.
As genomic technology improves, we may see more cases of misdiagnosis when patients’ DNA are sequenced and specific mutations are identified. The sooner we can do this, the better patients will fare with diagnosis, treatment, and maybe even some day, a cure.
CBC News, October 20, 2005 via Autism Diva who also has a very interesting write-up.
NEJM, Volume 353:1694-170, October 20, 2005
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POSTED IN: Genetics of Disease
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