Ahmad Farooq, Nasir Abdul, Thiele Holger, Umair Muhammad, Borck Guntram, Ahmad Wasim
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Institute of Human Genetics, University of Ulm, Ulm, Germany.
Ann Hum Genet. 2018 Jul;82(4):232-238. doi: 10.1111/ahg.12244. Epub 2018 Feb 12.
Ectodermal dysplasia syndactyly syndrome 1 (EDSS1) is a rare form of ectodermal dysplasia including anomalies of hair, nails, and teeth along with bilateral cutaneous syndactyly of hands and feet. In the present report, we performed a clinical and genetic characterization of a consanguineous Pakistani family with four individuals affected by EDSS1. We performed exome sequencing using DNA of one affected individual. Exome data analysis identified a novel homozygous missense variant (c.242T>C; p.(Leu81Pro)) in NECTIN4 (PVRL4). Sanger sequencing validated this variant and confirmed its cosegregation with the disease phenotype in the family members. Thus, our report adds a novel variant to the NECTIN4 mutation spectrum and contributes to the NECTIN4-related clinical characterization.
外胚层发育不良并指综合征1型（EDSS1）是一种罕见的外胚层发育不良形式，包括毛发、指甲和牙齿异常，以及手足双侧皮肤并指。在本报告中，我们对一个有四名个体受EDSS1影响的巴基斯坦近亲家庭进行了临床和基因特征分析。我们使用一名受影响个体的DNA进行了外显子组测序。外显子组数据分析在NECTIN4（PVRL4）中鉴定出一个新的纯合错义变异（c.242T>C；p.(Leu81Pro)）。桑格测序验证了该变异，并证实其与家庭成员的疾病表型共分离。因此，我们的报告为NECTIN4突变谱增添了一个新变异，并有助于NECTIN4相关的临床特征分析。
