Vicente Lucas Perez, Finzi Simone, Susanna Remo, Young Terri L
Department of Ophthalmology, Universidade de São Paulo (USP), São Paulo, SP, Brazil.
Department of Ophthalmology and Visual Sciences, University of Wisconsin, Wisconsin, USA.
Arq Bras Oftalmol. 2017 Jan-Feb;80(1):49-51. doi: 10.5935/0004-2749.20170013.
Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disorder characterized by sparse scalp hair caused by hair follicle abnormalities as well as progressive retinal degeneration leading to blindness in the second or third decade of life. It is associated with mutations of the cadherin 3 (CDH3) gene, which result in abnormal expression of P-cadherin. Mutations in CDH3 are related to ectodermal dysplasia, ectrodactyly, and macular dystrophy. In this report, we describe an 11-year-old Iranian boy born with a missing left index fingernail and sparse scalp hair who later displayed macular pigmentary changes. Genetic testing of the CDH3 gene revealed a homozygous gene variant at exon 6 (640A>T). This novel in-frame mutation converts a lysine to a premature stop codon, altering synthesis of P-cadherin on chromosome 16q22.
毛发稀少伴青少年黄斑营养不良是一种罕见的常染色体隐性疾病，其特征为毛囊异常导致头皮毛发稀疏，以及视网膜进行性变性，在人生的第二个或第三个十年导致失明。它与钙黏蛋白3（CDH3）基因的突变有关，该突变导致P-钙黏蛋白表达异常。CDH3的突变与外胚层发育不良、缺指畸形和黄斑营养不良有关。在本报告中，我们描述了一名11岁的伊朗男孩，出生时左食指指甲缺失且头皮毛发稀疏，后来出现黄斑色素改变。对CDH3基因的基因检测显示外显子6（640A>T）处有一个纯合基因变异。这种新的框内突变将赖氨酸转化为过早的终止密码子，改变了16q22染色体上P-钙黏蛋白的合成。
