Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia12. Issue 4 (7th February 2013)

• Record Type: Journal Article
• Authors: Plaisancié, Julie; Bailleul‐Forestier, Isabelle; Gaston, Véronique; Vaysse, Fréderic; Lacombe, Didier; Holder‐Espinasse, Muriel; Abramowicz, Marc; Coubes, Christine; Plessis, Ghislaine; Faivre, Laurence; Demeer, Bénédicte; Vincent‐Delorme, Catherine; Dollfus, Hélène; Sigaudy, Sabine; Guillén‐Navarro, Encarna; Verloes, Alain; Jonveaux, Philippe; Martin‐Coignard, Dominique; Colin, Estelle; Bieth, Eric; Calvas, Patrick; Chassaing, Nicolas
• Is Part Of: American journal of medical genetics. Volume 161:Issue 4(2013:Apr.)
• Page Start: 671
• Page End: 678
• Publication Date: 2013-02-07
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.35747
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <p>Ectodermal dysplasias (ED) are a clinically and genetically heterogeneous group of hereditary disorders that have in common abnormal development of ectodermal derivatives. Hypohidrotic ectodermal dysplasia (HED) is characterized by abnormal development of eccrine sweat glands, hair, and teeth. The X‐linked form of the disease, caused by mutations in the <italic>EDA</italic> gene, represents the majority of patients with the hypohidrotic form. Autosomal dominant and autosomal recessive forms are occasionally seen, and result from mutations in at least three genes (<italic>WNT10A</italic>, <italic>EDAR</italic>, or more rarely <italic>EDARADD</italic>). We have screened for mutations in <italic>EDAR</italic> (commonly involved in the hypohidrotic form) and <italic>WNT10A</italic> (involved in a wide spectrum of ED and in isolated hypodontia) in a cohort of 36 patients referred for <italic>EDA</italic> molecular screening, which failed to identify any mutation. We identified eight <italic>EDAR</italic> mutations in five patients (two with homozygous mutations, one with compound heterozygous mutations, and two with heterozygous mutation), four of which were novel variants. We identified 28 <italic>WNT10A</italic> mutations in 16 patients (5 with homozygous mutations, 7 with compound heterozygous mutations, and 4 with heterozygous mutations), seven of which were novel variants. Our study allows a more precise definition of the phenotypic spectrum associated with <italic>EDAR</italic> and <italic>WNT10A</italic> mutations and underlines the importance of the implication of <italic>WNT10A</italic> among patients with ED. © 2013 Wiley Periodicals, Inc.</p> </abstract>