Communicated by Mark H. Paalman
Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia†
Article first published online: 24 JAN 2006
© 2006 Wiley-Liss, Inc.
Volume 27, Issue 3, pages 255–259, March 2006
How to Cite
Chassaing, N., Bourthoumieu, S., Cossee, M., Calvas, P. and Vincent, M.-C. (2006), Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia. Hum. Mutat., 27: 255–259. doi: 10.1002/humu.20295
- Issue published online: 3 FEB 2006
- Article first published online: 24 JAN 2006
- Manuscript Revised: 11 NOV 2005
- Manuscript Received: 13 JAN 2005
- Délégation Régionale à la Recherche Clinique des Hôpitaux de Toulouse 2003. Grant Number: 01.033.08
- hypohidrotic ectodermal dysplasia;
Hypohidrotic ectodermal dysplasia (HED) is characterized by abnormal development of the eccrine sweat glands, hair, and teeth. The X-linked form of the disease, caused by mutations in the ED1 gene, represents the majority of HED cases. Autosomal-dominant and -recessive forms occur occasionally and result from mutations in at least two genes: EDAR and EDARADD. These different forms are phenotypically indistinguishable. To better assess the implication of the EDAR gene in HED, we screened for mutations in 37 unrelated HED families or sporadic cases with no detected mutations in the ED1 gene. We identified 11 different mutations, nine of which are novel variants, in two familial and seven sporadic cases. Seven of the 11 are recessive mutations (c.140G>A (p.Cys47Tyr), c.266G>A (p.Arg89His), c.329A>C (p.Asp110Ala), c.442T>C (p.Cys148Arg), c.1208C>T (p.Thr403Met), c.1302G>T (p.Trp434Cys) and c.528+1G>A), and the other four are probably dominant (c.1129C>T (p.Leu377Phe), c.1237A>C (p.Thr413Pro), c.1253T>C (p.Ile418Thr), and c.1259G>A (p.Arg420Gln)). Our study demonstrates that EDAR is implicated in about 25% of non-ED1 HED, and may account for both autosomal-dominant and -recessive forms. The correlation between the nature and location of EDAR mutations and their mode of inheritance is discussed. A genotype–phenotype relationship was evaluated, since such data could be helpful for genetic counseling. Hum Mutat 27(3), 255–259, 2006. © 2006 Wiley-Liss, Inc.