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Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia.
Am J Hum Genet ; 81(4): 821-8, 2007 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-17847007
ABSTRACT
Odonto-onycho-dermal dysplasia is a rare autosomal recessive syndrome in which the presenting phenotype is dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, keratoderma and hyperhidrosis of palms and soles, and hyperkeratosis of the skin. We studied three consanguineous Lebanese Muslim Shiite families that included six individuals affected with odonto-onycho-dermal dysplasia. Using a homozygosity-mapping strategy, we assigned the disease locus to an ~9-cM region at chromosome 2q35-q36.2, located between markers rs16853834 and D2S353, with a maximum multipoint LOD score of 5.7. Screening of candidate genes in this region led us to identify the same c.697G-->T (p.Glu233X) homozygous nonsense mutation in exon 3 of the WNT10A gene in all patients. At the protein level, the mutation is predicted to result in a premature truncated protein of 232 aa instead of 417 aa. This is the first report to our knowledge of a human phenotype resulting from a mutation in WNT10A, and it is the first demonstration of an ectodermal dysplasia caused by an altered WNT signaling pathway, expanding the list of WNT-related diseases.
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Índice: MEDLINE Assunto principal: Displasia Ectodérmica / Odontodisplasia / Códon sem Sentido / Proteínas Wnt / Unhas Malformadas Tipo de estudo: Relato de Casos Aspecto clínico: Predição / Prognóstico Limite: Criança, pré-escolar / Feminino / Humanos / Masculino / Meia-Idade País/Região como assunto: Ásia Idioma: Inglês Revista: Am J Hum Genet Ano de publicação: 2007 Tipo de documento: Artigo País de afiliação: França