title: A novel homozygous nonsense mutation in the PVRL4 gene and expansion of clinical spectrum of EDSS1.
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.
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan; Army Medical College, National University of Science & Technology (NUST), Islamabad, Pakistan.
authors.forename: Syed Irfan
authors.initials: SI
authors.lastname: Raza
authors.forename: Rashid
authors.initials: R
authors.lastname: Nasser Dar
authors.forename: Anwar Ali
authors.initials: AA
authors.lastname: Shah
authors.forename: Wasim
authors.initials: W
authors.lastname: Ahmad
mesh_terms: D000328:Adult; D015815:Cell Adhesion Molecules / Q000235:genetics*; D018389:Codon, Nonsense; D003241:Consanguinity; D004252:DNA Mutational Analysis; D004476:Ectodermal Dysplasia / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D010154:Pakistan; D013576:Syndactyly / Q000235:genetics*; D000075983:Nectins
chemical_list: D015815:Cell Adhesion Molecules; D018389:Codon, Nonsense; C442228:NECTIN4 protein, human; D000075983:Nectins
keywords: Ectodermal dysplasia syndactyly syndrome; PVRL4 gene; expansion of clinical features; nonsense mutation