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| Título: | A novel EDA gene mutation in a Spanish family with X-linked hypohidrotic ectodermal dysplasia |
Otros títulos: | Una nueva mutación en el gen EDA en una familia española con displasia ectodérmica hipohidrótica ligada al cromosoma X | Autor: | Cañueto, Javier; Ciria, S.; González-Sarmiento, Rogelio CSIC ORCID | Fecha de publicación: | 2011 | Editor: | Elsevier España | Citación: | Actas Dermo-Sifiliograficas 102(9): 722-725 (2011) | Resumen: | X-linked hypohidrotic ectodermal dysplasia (XLHED) is characterized by abnormal development of the hair, teeth, and sweat glands. It is caused by mutations in the EDA gene, which maps to the X chromosome and encodes a protein called ectodysplasin-A, a member of the tumor necrosis factor-related ligand family. Affected males typically exhibit all the typical features of HED, but heterozygous carriers may show mild to moderate clinical manifestations. We describe the case of a Spanish family in which a novel heterozygous c.733-734insGA mutation at the EDA gene was identified. It was located in exon 5 and consisted of a frame-shift mutation at codon 245, which gave rise to an abnormal protein with a premature stop codon after 35 residues. Genetic analyses in families with XLHED are useful for checking carrier status, but they also provide information for genetic counseling and prenatal diagnosis. © 2010 Elsevier España, S.L. and AEDV. | Descripción: | et al. | URI: | http://hdl.handle.net/10261/59336 | DOI: | 10.1016/j.ad.2011.04.004 | Identificadores: | doi: 10.1016/j.ad.2011.04.004 issn: 0001-7310 e-issn: 1578-2190 |
| Aparece en las colecciones: | (IBMCC) Artículos |
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