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case 7 - Emily Lin 1 2 3 4 Case 7 Mutations in the ECM The...

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Emily Lin 3/26/11 Case 7: Mutations in the ECM 1. The MIM ID number is #108300. 2. The alternative titles or symbols for Stickler Syndrome are Stickler Syndrome Vitreous Type I, Stickler Syndrome, Membranous Vitreous Type, and Anthroophthalmopathy, Hereditary Progressive; AOM. 3. The Gene Map Locus for this disorder is 12q13.11-q13.2. 4. This form of Stickler syndrome used in this case results from a mutation on the COL2A1 gene and is also autosomal dominant. People affected by this disorder have a progressive myopia that results in eventual blindness from retinal detachment. Affected people also exhibit premature degenerative changes in various joints and have hyper mobility in some. Patients also display spondyloepiphyseal dysplasia. This disorder also results in ocular lesions. They have found that variability in the syndrome is interfamilial, which reflects heterogeneity demonstrated by the presence or absence of linkage to the COL2A1 gene.
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