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New Autosomal Recessive Form of Stickler Syndrome Is Caused by a Mutation in the COL9A1 Gene

 
  August, 16 2006 10:52
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Stickler syndrome is characterized by ophthalmic, articular, orofacial, and auditory manifestations. It has an autosomal dominant inheritance pattern and is caused by mutations in COL2A1, COL11A1, and COL11A2. In a paper published in the American Journal of Human Genetics (Vol. 79, pp.449-457), the scientists (Van Vamp et al.) describe a family of Moroccan origin that consists of four children with Stickler syndrome, six unaffected children, and two unaffected parents who are distant relatives (fifth degree). All family members were clinically investigated for ear, nose, and throat; ophthalmologic; and radiological abnormalities..

Contact:

Shin-ichi Usami
Antwerp University Hospital, Antwerp, Belgium; and Department of Otorhinolaryngology, Shinshu University School of Medicine, Matsumoto, Japan

Table of Contents of Volume 79 (No. 3) with links to Abstracts: TOC.

(C) American Journal of Human Genetics.

Posted by: Tressie Dalaya


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