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Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin |
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| Authors: | 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 |
| Institution: | (1) Department of Molecular Genetics, Institute of Ophthalmology, London EC1V 9EL, UK,;(2) Moorfields Eye Hospital, London, UK,;(3) Research Laboratories, Biochemical and Genetic Engineering Division, Islamabad, Pakistan,;(4) Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St. Louis, USA, |
| 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-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. Electronic Publication |
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