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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene
American Journal of Medical Genetics, Part A, Volume 146, No. 20, Year 2008
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Description
We report on an 18-year-old woman, born to first-cousin parents, presenting with a severe form of anhydrotic ectodermal dysplasia (EDA/HED). She had sparse hair, absent limb hair, absent sweating, episodes of hyperpyrexia, important hypodontia, and hyperconvex nails. She also showed unusual clinical manifestations such as an absence of breasts, a rudimentary extranumerary areola and nipple on the left side, and marked palmo-plantar hyperkeratosis. Light microscopy of skin biopsies showed orthokeratotic hyperkeratosis and absence of sweat glands. A novel homozygous mutation (IVS9 + 1G > A) in the EDAR gene was identified. This mutation results in a total absence of EDAR transcripts and consequently of the EDAR protein, which likely results in abolition of all ectodysplasin-mediated NF-κB signaling. This is the first complete loss-of-function mutation in the EDAR gene reported to date, which may explain the unusual presentation of HED in this patient, enlarging the clinical spectrum linked to the dysfunction of the ectodysplasin mediated NF-κB signaling. © 2008 Wiley-Liss, Inc.
Authors & Co-Authors
Meǵarbané, Hala
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Lebanon, Beirut
Saint George Hospital University Medical Center
France, Paris
Université Saint-joseph
Cluzeau, C.
France, Paris
Inserm
Bodemer, Christine
France, Paris
Inserm
France, Paris
Hôpital Necker Enfants Malades
Fraïtag, Sylvie R.
France, Paris
Hôpital Necker Enfants Malades
Chababi-Atallah, Myrna
Lebanon, Beirut
Institut National de Pathologie
Megarbane, Andre
Lebanon, Beirut
Université Saint-joseph de Beyrouth
Smahi, Asma
France, Paris
Inserm
Statistics
Citations: 32
Authors: 7
Affiliations: 6
Identifiers
Doi:
10.1002/ajmg.a.32509
ISSN:
15524825
e-ISSN:
15524833
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Participants Gender
Female