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Article: Gene Found for Rare Disorder May Reveal New Pathway in Mental Retardation.
- Article from:
- PR Newswire
- Article date:
- February 5, 2007
CopyrightCOPYRIGHT 2007 PR Newswire Association LLC. This material is published under license from the publisher through the Gale Group, Farmington Hills, Michigan. All inquiries regarding rights should be directed to the Gale Group. (Hide copyright information)
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PHILADELPHIA, Feb. 5 /PRNewswire/ -- Studying mutations that give rise to a rare genetic disease, genetics researchers have identified a novel biological pathway that may have a broader role during human development, potentially in cases of mental retardation and autism.
An international team of researchers identified two genes that contribute to Cornelia deLange syndrome (CdLS), a multisystem genetic disease that affects an estimated one in 10,000 children. The disease varies from milder to more severe forms, but classically includes mental retardation, impaired growth, heart defects, feeding problems, deformed upper limbs and distinctive facial features.
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