Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome.

ABSTRACT:

Objective

To report a 3-generation white family clinically diagnosed variably with Wagner, Stickler, and Jansen syndromes and screened for sequence variants in the COL2A1 and CSPG2 genes. Wagner syndrome is an autosomal dominant vitreoretinopathy with a predisposition to retinal detachment and cataracts. It has significant phenotypic overlap with allelic Jansen syndrome and ocular Stickler syndrome type 1. Sticker syndrome type 1 maps to chromosome 12q13.11-q13.2, with associated COL2A1 gene mutations. Wagner syndrome maps to chromosome 5q13-q14 and is associated with mutations in CSPG2 encoding versican, a proteoglycan present in human vitreous.

Methods

Genomic DNA samples derived from venous blood were collected from all family members. Complete sequencing of COL2A1 was pe

SUBMITTER: Ronan SM 

PROVIDER: S-EPMC3514888 | biostudies-literature | 2009 Nov

REPOSITORIES: biostudies-literature