|
|
|
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
Message posted by: Trevor M. D'Souza
|
|
Variants Associated with Pediatric Allergic Disorder
Mutations in PHF6 Found in T-Cell Leukemia
Genetic Risk Variant for Urinary Bladder Cancer
Antibody Has Therapeutic Effect on Mice with ALS
Regulating P53 Activity in Cancer Cells
Anti-RNA Therapy Counters Breast Cancer Spread
Mitochondrial DNA Diversity
The Power of RNA Sequencing
‘Pro-Ageing' Therapy for Cancer?
Niche Genetics Influence Leukaemia
Molecular Biology: Clinical Promise for RNA Interference
Chemoprevention Cocktail for Colon Cancer
more news ...
|