Raza Syed Irfan, Nasser Dar Rashid, Shah Anwar Ali, Ahmad Wasim
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan; Army Medical College, National University of Science & Technology (NUST), Islamabad, Pakistan.
Ann Hum Genet. 2015 Mar;79(2):92-8. doi: 10.1111/ahg.12094. Epub 2014 Dec 22.
Ectodermal dysplasias (EDs) belong to a group of genetic diseases which result from alterations in ectoderm-derived appendages including hair, nail, teeth and sweat glands. Ectodermal dysplasia syndactyly syndrome (EDSS1) is one of the rare forms of ED caused by mutations in nectin-4, encoded by the PVRL4 gene. The present study described clinical investigation of the EDSS1 identified in a large consanguineous family. Furthermore, DNA sequence analysis revealed a novel homozygous nonsense mutation (181C>T, p.Asp61*) in the PVRL4 gene.
外胚层发育不良（EDs）属于一组遗传性疾病，由外胚层衍生附属器（包括毛发、指甲、牙齿和汗腺）的改变引起。外胚层发育不良并指综合征（EDSS1）是由PVRL4基因编码的NECTIN - 4突变导致的罕见ED形式之一。本研究描述了对一个大型近亲家族中鉴定出的EDSS1的临床调查。此外，DNA序列分析揭示了PVRL4基因中的一个新的纯合无义突变（181C>T，p.Asp61*）。
