Recurrent heterozygous missense mutation, p.Gly573Ser, in the TRPV3 gene in an Indian boy with sporadic Olmsted syndrome.
Br J Dermatol
; 167(2): 440-2, 2012 Aug.
Article
em En
| MEDLINE
| ID: mdl-22835024
Olmsted syndrome (OS) is a rare genodermatosis that is often difficult to diagnose because of clinical overlap with other disorders and its uncertain mode of inheritance. The molecular basis of OS was investigated in an Indian boy using comparative exome sequencing and Sanger sequencing data. Sequencing identified a G-to-A transition at position c.573 in the TRPV3 gene, producing the missense mutation p.Gly573Ser in the proband. This mutation was not identified in the mother. This study supports the recent finding of TRPV3 as the gene implicated in OS and suggests that the mutation p.Gly573Ser may be a recurrent abnormality in this genodermatosis.
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Base de dados:
MEDLINE
Assunto principal:
Ceratodermia Palmar e Plantar
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Mutação de Sentido Incorreto
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Canais de Cátion TRPV
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Heterozigoto
Idioma:
En
Ano de publicação:
2012
Tipo de documento:
Article