title: 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.affiliation: Department of Molecular Genetics, Institute of Ophthalmology, London, UK. vberry@hgmp.mrc.ac.uk
authors.forename: V
authors.initials: V
authors.lastname: Berry
authors.forename: D
authors.initials: D
authors.lastname: Mackay
authors.forename: S
authors.initials: S
authors.lastname: Khaliq
authors.forename: P J
authors.initials: PJ
authors.lastname: Francis
authors.forename: A
authors.initials: A
authors.lastname: Hameed
authors.forename: K
authors.initials: K
authors.lastname: Anwar
authors.forename: S Q
authors.initials: SQ
authors.lastname: Mehdi
authors.forename: R J
authors.initials: RJ
authors.lastname: Newbold
authors.forename: A
authors.initials: A
authors.lastname: Ionides
authors.forename: A
authors.initials: A
authors.lastname: Shiels
authors.forename: T
authors.initials: T
authors.lastname: Moore
authors.forename: S S
authors.initials: SS
authors.lastname: Bhattacharya
mesh_terms: D002386:Cataract / Q000151:congenital* / Q000235:genetics*; D017630:Connexins; D005136:Eye Proteins / Q000235:genetics* / Q000502:physiology; D005260:Female; D005819:Genetic Markers; D006801:Humans; D008297:Male; D008954:Models, Biological; D020125:Mutation, Missense; D010154:Pakistan; D010641:Phenotype; D000099264:Connexin 50
chemical_list: D017630:Connexins; D005136:Eye Proteins; D005819:Genetic Markers; D000099264:Connexin 50