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Hum Genet. 1999 Jul-Aug;105(1-2):168-70.

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

Author information

1
Department of Molecular Genetics, Institute of Ophthalmology, London, UK. vberry@hgmp.mrc.ac.uk

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 theta=0) were obtained for markers D1S305 and D1S2721, which are known to flank the gene for connexin 50 (Cx50) or gap junction protein alpha-8 (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.

PMID:
10480374
DOI:
10.1007/s004399900094
[Indexed for MEDLINE]

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