A Novel Homozygous Nonsense Mutation in the PVRL4 Gene and Expansion of Clinical Spectrum of EDSS1

作者：Raza Syed Irfan; Dar Rashid Nasser; Shah Anwar Ali; Ahmad Wasim^*

来源：Annals of Human Genetics, 2015, 79(2): 92-98.

DOI：10.1111/ahg.12094

• Ectodermal dysplasia syndactyly syndrome
• expansion of clinical features
• PVRL4 gene
• nonsense mutation

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.

• 出版日期2015-3