Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin.
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.
Berry
V
V
Department of Molecular Genetics, Institute of Ophthalmology, London, UK. vberry@hgmp.mrc.ac.uk
Mackay
D
D
Khaliq
S
S
Francis
P J
PJ
Hameed
A
A
Anwar
K
K
Mehdi
S Q
SQ
Newbold
R J
RJ
Ionides
A
A
Shiels
A
A
Moore
T
T
Bhattacharya
S S
SS
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
D017630:Connexins; D005136:Eye Proteins; D005819:Genetic Markers; D000099264:Connexin 50