Literature DB >> 29456479

A Novel Missense Variant in the PVRL4 Gene Underlying Ectodermal Dysplasia-Syndactyly Syndrome in a Turkish Child.

Leila Dardour1, Katrien Cosyns2, Koenraad Devriendt1.   

Abstract

Ectodermal dysplasia-syndactyly syndrome is a rare autosomal recessive congenital disorder caused by mutations in PVRL4 coding for nectin-4. Five different mutations in the PVRL4 gene, including 3 homozygous missense mutations, have been reported. Here, we present an unreported missense variant (c.247C>T, p.His83Tyr) in a consanguineous Turkish family.

Entities:  

Keywords:  Ectodermal dysplasia; PVRL4; Syndactyly

Year:  2017        PMID： 29456479      PMCID： PMC5803726          DOI： 10.1159/000479359

Source DB:  PubMed          Journal:  Mol Syndromol        ISSN： 1661-8769


  6 in total

1.  Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1).

Authors:  Musharraf Jelani; Muhammad Salman Chishti; Wasim Ahmad
Journal:  J Hum Genet       Date:  2011-02-24       Impact factor: 3.172

2.  Ectodermal dysplasias.

Authors:  N Freire-Maia
Journal:  Hum Hered       Date:  1971       Impact factor: 0.444

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

Authors:  Syed Irfan Raza; Rashid Nasser Dar; Anwar Ali Shah; Wasim Ahmad
Journal:  Ann Hum Genet       Date:  2014-12-22       Impact factor: 1.670

4.  Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome.

Authors:  Francesco Brancati; Paola Fortugno; Irene Bottillo; Marc Lopez; Emmanuelle Josselin; Omar Boudghene-Stambouli; Emanuele Agolini; Laura Bernardini; Emanuele Bellacchio; Miriam Iannicelli; Alfredo Rossi; Amina Dib-Lachachi; Liborio Stuppia; Giandomenico Palka; Stefan Mundlos; Sigmar Stricker; Uwe Kornak; Giovanna Zambruno; Bruno Dallapiccola
Journal:  Am J Hum Genet       Date:  2010-08-13       Impact factor: 11.025

5.  Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation.

Authors:  Paola Fortugno; Emmanuelle Josselin; Konstantinos Tsiakas; Emanuele Agolini; Gianluca Cestra; Massimo Teson; René Santer; Daniele Castiglia; Giuseppe Novelli; Bruno Dallapiccola; Ingo Kurth; Marc Lopez; Giovanna Zambruno; Francesco Brancati
Journal:  J Invest Dermatol       Date:  2014-02-27       Impact factor: 8.551

Review 6.  Nectinopathies: an emerging group of ectodermal dysplasia syndromes.

Authors:  F Brancati; E Agolini; P Fortugno
Journal:  G Ital Dermatol Venereol       Date:  2013-02       Impact factor: 2.011
  6 in total
  1 in total

1.  Ectodermal Dysplasia-Syndactyly Syndrome with Toe-Only Minimal Syndactyly Due to a Novel Mutation in NECTIN4: A Case Report and Literature Review.

Authors:  Roberta Rotunno; Andrea Diociaiuti; Maria Lisa Dentici; Martina Rinelli; Michele Callea; Chiara Retrosi; Giovanna Zambruno; Emanuele Bellacchio; May El Hachem
Journal:  Genes (Basel)       Date:  2021-05-17       Impact factor: 4.096
  1 in total

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