Analysis of the vitreous membrane in a case of type 1 Stickler syndrome
β Scribed by Tadashi Yokoi; Ryouhei Koide; Kentaro Matsuoka; Atsuko Nakagawa; Noriyuki Azuma
- Publisher
- Springer-Verlag
- Year
- 2008
- Tongue
- English
- Weight
- 229 KB
- Volume
- 247
- Category
- Article
- ISSN
- 0065-6100
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Stickler syndrome is a dominantly inherited disorder affecting the fibrillar type II/XI collagen molecules expressed in vitreous and cartilage. Mutations have been found in COL2A1, COL11A1 and COL11A2. It has a highly variable phenotype that can include midline clefting, hearing loss, premature oste
We describe a novel type of mutation in the COL2A1 gene in a family with Stickler syndrome, namely a deletion of an entire COL2A1 allele. Until now, almost all COL2A1 mutations found in this syndrome are nucleotide substitutions, small deletions, or insertions, resulting in premature translation ter
including sparse hair, a "pearshaped" nose, osteodysplasia with coneshaped epiphyses, and autosomal dominant inheritance, but is distinguished by the presence of severe brachydactyly. TRP III was first described in 1984