A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia

Wohlfart S, Söder S, Smahi A, Schneider H (2016)

Publication Type: Journal article

Publication year: 2016

Journal

American Journal of Medical Genetics Part A Wiley-Blackwell

Book Volume: 170A

Pages Range: 249-53

Journal Issue: 1

DOI: 10.1002/ajmg.a.37412

Abstract

Hypohidrotic ectodermal dysplasia (HED) is a rare disorder characterized by deficient development of structures derived from the ectoderm including hair, nails, eccrine glands, and teeth. HED forms that are caused by mutations in the genes EDA, EDAR, or EDARADD may show almost identical phenotypes, explained by a common signaling pathway. Proper interaction of the proteins encoded by these three genes is important for the activation of the NF-?B signaling pathway and subsequent transcription of the target genes. Mutations in the gene EDARADD are most rarely implicated in HED. Here we describe a novel missense mutation, c.367G>A (p.Asp123Asn), in this gene which did not appear to influence the interaction between EDAR and EDARADD proteins, but led to an impaired ability to activate NF-?B signaling. Female members of the affected family showed either unilateral or bilateral amazia. In addition, an affected girl developed bilateral ovarian teratomas, possibly associated with her genetic condition.

Authors with CRIS profile

Sigrun Maier-Wohlfart Department of Paediatrics and Adolescent Medicine Holm Schneider Professur für Kinderheilkunde/Experimentelle Perinatalmedizin

Involved external institutions

Hôpital Necker-Enfants malades FR France (FR)

How to cite

APA:

Wohlfart, S., Söder, S., Smahi, A., & Schneider, H. (2016). A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia. American Journal of Medical Genetics Part A, 170A(1), 249-53. https://doi.org/10.1002/ajmg.a.37412

MLA:

Wohlfart, Sigrun, et al. "A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia." American Journal of Medical Genetics Part A 170A.1 (2016): 249-53.

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