A novel mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia.
Am J Med Genet A
; 164A(8): 2059-61, 2014 Aug.
Article
em En
| MEDLINE
| ID: mdl-24764207
ABSTRACT
We report on a 2-year-old girl presenting with a severe form of hypohidrotic ectodermal dysplasia (HED). The patient presented with hypotrichosis, anodontia, hypohidrosis, frontal bossing, prominent lips and ears, dry, pale skin, and dermatitis. The patient had chronic rhinitis with malodorous nasal discharge. The girl was the second born child of first-cousin immigrants from Northern Iraq. A novel homozygous mutation (c.84delC) in the EDAR gene was identified. This mutation most likely causes a frameshift in the protein product (p.S29fs*74). This results in abolition of all ectodysplasin-mediated NF-kB signalling. This complete loss-of-function mutation likely accounts for the severe clinical abnormalities in ectodermal structures in the described patient.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fenótipo
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Displasia Ectodérmica Hipo-Hidrótica Autossômica Recessiva
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Receptor Edar
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Estudos de Associação Genética
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Mutação
Tipo de estudo:
Etiology_studies
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Prognostic_studies
Limite:
Child, preschool
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Female
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Humans
Idioma:
En
Revista:
Am J Med Genet A
Ano de publicação:
2014
Tipo de documento:
Article