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Article

Mutation of the gap junction protein alpha 8 (<i>GJA8</i>) gene causes autosomal recessive cataract

29 Jun 2007

Abstract excerpt

BACKGROUND: GJA8 encodes connexin-50, a gap junction protein in the eye lens. Mutations in GJA8 have been reported in families with autosomal dominant cataract. OBJECTIVE: To identify the disease gene in a family with congenital cataract of autosomal recessive inheritance. METHODS: Eight candidate genes were screened for pathogenic alterations in affected and unaffected family members and in normal unrelated...

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Identifiers

PMID: 17601931
DOI: 10.1136/jmg.2007.050138

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