Discovery of X-Linked Intellectual Disability Syndrome Aided by Web Tools
[Source: Science Daily]
It’s a genetic detective story with a distinct 21st-century flavor. A geneticist from Cold Spring Harbor Laboratory (CSHL) in the United States has used powerful internet and social media tools to find doctors and researchers in nine U.S. states and eight other nations to help him confirm, document and describe in precise clinical detail a new genetic syndrome in young boys that he first came across five years ago.
Still lacking a name, the rare syndrome causes developmental delays and intellectual disability (ID), usually severe. Affected children also often have a characteristic set of facial malformations and weak muscle tone throughout the body, a condition doctors call generalized hypotonia. A paper appearing today in the American Journal of Human Genetics describes 14 cases, involving boys from 11 unrelated families.
“Informally, we call this ‘TAF1 syndrome,’ because the TAF1 gene, located on the X chromosome, is mutated in all patients,” says CSHL Assistant Professor Gholson Lyon, M.D., Ph.D. A child psychiatrist as well as a genetics researcher, Lyon first began thinking about the syndrome in 2010, when he was introduced to a family in Utah with two young boys who were both seriously ill, in similar ways.
“The boys, two years apart, suffered from intellectual disability,” Lyon notes, “but they also had other symptoms in common, including particular facial dysmorphologies, that were not quite like anything described in the medical literature. Since then, I’ve been working in various ways to understand the condition, including finding other physicians and geneticists who may have seen similar patients.”
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