A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia.
Am J Med Genet A
; 170A(1): 249-53, 2016 Jan.
Article
en En
| MEDLINE
| ID: mdl-26440664
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-κB 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-κB 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.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Neoplasias Ováricas
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Teratoma
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Mutación Missense
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Displasia Ectodermal Anhidrótica Tipo 1
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Proteína de Dominio de Muerte Asociada a Edar
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Receptor Edar
Tipo de estudio:
Risk_factors_studies
Límite:
Adolescent
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Female
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Humans
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Male
Idioma:
En
Año:
2016
Tipo del documento:
Article