Berry V, Mackay D, Khaliq S, Francis P J, Hameed A, Anwar K, Mehdi S Q, Newbold R J, Ionides A, Shiels A, Moore T, Bhattacharya S S
Department of Molecular Genetics, Institute of Ophthalmology, London, UK.
Hum Genet. 1999 Jul-Aug;105(1-2):168-70. doi: 10.1007/s004399900094.
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.
遗传性白内障是一种临床和遗传异质性疾病，最常表现为先天性常染色体显性性状。在此，我们报告了一个起源于巴基斯坦的三代家族与1q21.1染色体上常染色体显性白内障“板层核性”粉末状类型（CZNP）的连锁关系。全基因组连锁分析排除了除1q染色体外所有已知的白内障基因座。对于标记D1S305和D1S2721，获得了显著阳性的两点连锁lod值（在θ=0时Z=3.01），已知这两个标记位于连接蛋白50（Cx50）或缝隙连接蛋白α-8（Gja8）基因的侧翼。此前，在一个患有板层粉末状白内障（CZP）的英国家族中报道了该基因的一个突变。在此，我们描述了连接蛋白50中的第二个突变（E48K），证实了该基因参与白内障的发生。
