A novel homozygous nonsense mutation in the PVRL4 gene and expansion of clinical spectrum of EDSS1

Syed Irfan Raza; Rashid Nasser Dar; Anwar Ali Shah; Wasim Ahmad

doi:10.1111/ahg.12094

A novel homozygous nonsense mutation in the PVRL4 gene and expansion of clinical spectrum of EDSS1

Ann Hum Genet. 2015 Mar;79(2):92-8. doi: 10.1111/ahg.12094. Epub 2014 Dec 22.

Authors

Syed Irfan Raza¹, Rashid Nasser Dar, Anwar Ali Shah, Wasim Ahmad

Affiliation

¹ Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan; Army Medical College, National University of Science & Technology (NUST), Islamabad, Pakistan.

PMID: 25529316
DOI: 10.1111/ahg.12094

Abstract

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.

Keywords: Ectodermal dysplasia syndactyly syndrome; PVRL4 gene; expansion of clinical features; nonsense mutation.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Cell Adhesion Molecules / genetics*
Codon, Nonsense*
Consanguinity
DNA Mutational Analysis
Ectodermal Dysplasia / genetics*
Ectodermal Dysplasia / pathology
Female
Humans
Male
Pakistan
Syndactyly / genetics*

Substances

Cell Adhesion Molecules
Codon, Nonsense
NECTIN4 protein, human