Connexin46 mutations in autosomal dominant congenital cataract

Article Abstract:

Loci for autosomal dominant zonular pulverulent cataract have been mapped to chromosomes 1q (CZP1) and 13q (CZP3), and for the latter genetic refinement has been achieved. Underlying mutations have been identified in the gene for gap junction protein alpha-3 (GJA3) (ital) or connexin46 (Cx46). GJA3 (ital) has been shown to be the sixth member of the connexin gene family implicated in human disease. The importance of gap-junction communication in development of transparent eye lenses is substantiated.

Canada, Usage, Genetic aspects, Cataract, Birth defects, Chromosome mapping, Cataracts

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Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (optiz trigonocephaly) syndrome

Article Abstract:

An identification of a missense mutation in exon 6 of the CD96 gene in one patient with the C (opitz trigonocephaly) like syndrome. Result show CD96 mutations may cause a form of the C syndrome by interfering with cell adhesions and growth.

Genetic research

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CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q

Article Abstract:

The first mutations in a novel gene for inherited cataracts linked to 20q is identified and suggested that gain of function defects in an endosome sorting complex (ESCRT-III) subunit triggers loss of lens transparency.

Chromosome abnormalities

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