Universität zu Köln

Ahmad, Farooq, Nasir, Abdul ORCID: 0000-0002-2339-3500, Thiele, Holger, Umair, Muhammad, Borck, Guntram and Ahmad, Wasim (2018). A novel homozygous missense variant in NECTIN4 (PVRL4) causing ectodermal dysplasia cutaneous syndactyly syndrome. Ann. Hum. Genet., 82 (4). S. 232 - 239. HOBOKEN: WILEY. ISSN 1469-1809

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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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Ahmad, Farooq UNSPECIFIED UNSPECIFIED UNSPECIFIED Nasir, Abdul UNSPECIFIED orcid.org/0000-0002-2339-3500 UNSPECIFIED Thiele, Holger UNSPECIFIED UNSPECIFIED UNSPECIFIED Umair, Muhammad UNSPECIFIED UNSPECIFIED UNSPECIFIED Borck, Guntram UNSPECIFIED UNSPECIFIED UNSPECIFIED Ahmad, Wasim UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-182305
DOI:	10.1111/ahg.12244
Journal or Publication Title:	Ann. Hum. Genet.
Volume:	82
Number:	4
Page Range:	S. 232 - 239
Date:	2018
Publisher:	WILEY
Place of Publication:	HOBOKEN
ISSN:	1469-1809
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language CELL-CELL ADHESION; MUTATIONS; AFADIN; RAC1; GENE; FAMILY; EDSS1 Multiple languages Genetics & Heredity Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/18230