A novel homozygous missense variant in NECTIN4 (PVRL4) causing ectodermal dysplasia cutaneous syndactyly syndrome. (12th February 2018)

• Record Type: Journal Article
• Authors: Ahmad, Farooq; Nasir, Abdul; Thiele, Holger; Umair, Muhammad; Borck, Guntram; Ahmad, Wasim
• Is Part Of: Annals of human genetics. Volume 82:Number 4(2018:Jul.)
• Page Start: 232
• Page End: 238
• Publication Date: 2018-02-12
• Subjects: consanguinity -- ectodermal dysplasia syndactyly syndrome 1 -- EDSS1 -- homozygous -- mutation -- NECTIN4; Human genetics -- Periodicals; 599.935
• DOI: 10.1111/ahg.12244
• Languages: English
• ISSNs: 0003-4800

Abstract

Abstract: Ectodermal dysplasia syndactyly syndrome 1 (EDSS1) is a rare form of ectodermal dysplasia including anomalies of hair, nails, and teeth along with bilateral cutaneous syndactyly of hands and feet. In the present report, we performed a clinical and genetic characterization of a consanguineous Pakistani family with four individuals affected by EDSS1. We performed exome sequencing using DNA of one affected individual. Exome data analysis identified a novel homozygous missense variant (c.242T>C; p.(Leu81Pro)) in NECTIN4 ( PVRL4 ). Sanger sequencing validated this variant and confirmed its cosegregation with the disease phenotype in the family members. Thus, our report adds a novel variant to the NECTIN4 mutation spectrum and contributes to the NECTIN4 ‐related clinical characterization.