Clinical Variability of Stickler Syndrome: Role of Exon 2 of the Collagen COL2A1 Gene
โ Scribed by Larry A Donoso; Albert O Edwards; Arcilee T Frost; Robert Ritter III; Nina Ahmad; Tamara Vrabec; Jerry Rogers; David Meyer; Scott Parma
- Book ID
- 117221722
- Publisher
- Elsevier Science
- Year
- 2003
- Tongue
- English
- Weight
- 471 KB
- Volume
- 48
- Category
- Article
- ISSN
- 0039-6257
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Stickler syndrome type I (STL1) is a phenotypically heterogeneous disorder characterized by ocular and extraocular features. It is caused by null-allele mutations in the COL2A1 gene that codes for procollagen II. COL2A1 precursor mRNA undergoes alternative splicing, resulting in two isoforms, a long
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