Sprecher E, Bergman R, Richard G, Lurie R, Shalev S, Petronius D, Shalata A, Anbinder Y, Leibu R, Perlman I, Cohen N, Szargel R
Department of Dermatology, Rambam Medical Center, Haifa 31096, Israel.
Nat Genet. 2001 Oct;29(2):134-6. doi: 10.1038/ng716.
Congenital hypotrichosis associated with juvenile macular dystrophy (HJMD; MIM601553) is an autosomal recessive disorder of unknown etiology, characterized by hair loss heralding progressive macular degeneration and early blindness. We used homozygosity mapping in four consanguineous families to localize the gene defective in HJMD to 16q22.1. This region contains CDH3, encoding P-cadherin, which is expressed in the retinal pigment epithelium and hair follicles. Mutation analysis shows in all families a common homozygous deletion in exon 8 of CDH3. These results establish the molecular etiology of HJMD and implicate for the first time a cadherin molecule in the pathogenesis of a human hair and retinal disorder.
先天性少毛症伴青少年黄斑营养不良（HJMD；MIM601553）是一种病因不明的常染色体隐性疾病，其特征是脱发预示着进行性黄斑变性和早期失明。我们在四个近亲家庭中使用纯合性定位将HJMD中的缺陷基因定位到16q22.1。该区域包含编码P-钙黏蛋白的CDH3，其在视网膜色素上皮和毛囊中表达。突变分析显示，在所有家庭中CDH3外显子8均存在常见的纯合缺失。这些结果确定了HJMD的分子病因，并首次表明钙黏蛋白分子在人类毛发和视网膜疾病的发病机制中起作用。
