Condition: Stickler Syndrome, Type I, Nonsyndromic Ocular


rs121912872 in COL2A1 gene and Stickler Syndrome, Type I, Nonsyndromic Ocular PMID 17721977 2008 Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome.

PMID 8317498 1993 Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy)

PMID 16752401 2006 High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1.

PMID 15671297 2005 A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment.

PMID 11007540 2000 Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix.