Novel and recurrent COL2A1 mutations in Chinese patients with spondyloepiphyseal dysplasia.
Genet Mol Res
; 11(4): 4130-7, 2012 Dec 03.
Article
em En
| MEDLINE
| ID: mdl-23079993
ABSTRACT
Spondyloepiphyseal dysplasia (SED) is an autosomal dominant skeletal dysplasia characterized by short stature, abnormal epiphyses and flattened vertebral bodies. SED is mainly caused by mutations in the gene encoding the type II procollagen α-1 chain (COL2A1). We looked for mutations in COL2A1 in three unrelated Chinese families with SED. Putative mutations were confirmed by RFLP analysis. We identified three missense mutations (p.G504S, p.G801S and p.G1176V) located in the triple-helical domain; p.G801S and p.G1176V are novel mutations. The p.G504S mutation has been associated with diverse phenotypes in previous studies. Our study extends the mutation spectrum of SED and confirms a relationship between mutations in the COL2A1 gene and clinical findings of SED.
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Osteocondrodisplasias
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Mutação de Sentido Incorreto
/
Colágeno Tipo II
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Child
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Genet Mol Res
Assunto da revista:
BIOLOGIA MOLECULAR
/
GENETICA
Ano de publicação:
2012
Tipo de documento:
Article
País de afiliação:
China