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

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.

• Authors: V Berry, D Mackay, S Khaliq, P J Francis, A Hameed, K Anwar, S Q Mehdi, R J Newbold, A Ionides, A Shiels, T Moore, S S Bhattacharya
• Journal: Human genetics (Hum Genet) 1999 Jul-Aug Vol. 105 Issue 1-2 Pg. 168-70 ISSN: 0340-6717 [Print] Germany
• PMID: 10480374 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Connexins
• Eye Proteins
• Genetic Markers
• connexin 50

Topics

• Cataract (congenital, genetics)
• Connexins
• Eye Proteins (genetics, physiology)
• Female
• Genetic Markers
• Humans
• Male
• Models, Biological
• Mutation, Missense
• Pakistan
• Phenotype