A Novel Homozygous Nonsense Mutation in the PVRL4 Gene and Expansion of Clinical Spectrum of EDSS1. (22nd December 2014)

• Record Type: Journal Article
• Authors: Raza, Syed Irfan; Nasser Dar, Rashid; Shah, Anwar Ali; Ahmad, Wasim
• Is Part Of: Annals of human genetics. Volume 79:Number 2(2015:Mar.)
• Page Start: 92
• Page End: 98
• Publication Date: 2014-12-22
• Subjects: Human genetics -- Periodicals; 599.935
• DOI: 10.1111/ahg.12094
• Languages: English
• ISSNs: 0003-4800

Abstract

<abstract abstract-type="main"> <title>Summary</title> <p>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 <italic>PVRL4</italic> 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&gt;T, p.Asp61*) in the <italic>PVRL4</italic> gene.</p> </abstract>