Connexin 50 mutation in a family with congenital 'zonular nuclear' pulverulent cataract of Pakistani origin

Vanita Berry, Donna Mackay, Shagufta Khaliq, Peter J. Francis, Abdul Hameed, Khalid Anwar, S. Qasim Mehdi, Richard J. Newbold, Alex Ionides, Alan Shiels, Tony Moore, Shomi S. Bhattacharya

Research output: Contribution to journalArticlepeer-review

125 Scopus citations

Abstract

Inherited cataract is a clinically and genetically heterogeneous disease that most often presents as a congenital autosomal dominant trait. Here we report linkage of a three-generation family of Pakistani origin with autosomal dominant cataract 'zonular nuclear' pulverulent type (CZNP) on chromosome 1q21.1. Genome wide-linkage analysis excluded all the known cataract loci except on chromosome 1q. Significantly positive 2-point lod score values (Z = 3.01 at θ = 0) were obtained for markers D1S305 and D1S2721, which are known to flank the gene for connexin 50 (Cx50) or gap junction protein alpha-X (Gja8). Previously a mutation in this gene has been reported in a British family with zonular pulverulent cataract (CZP). Here we describe a second mutation (E48K) in connexin 50 that confirms the involvement of this gene in cataractogenesis.

Original languageEnglish
Pages (from-to)168-170
Number of pages3
JournalHuman genetics
Volume105
Issue number1-2
DOIs
StatePublished - 1999

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