Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.
Nat Genet
; 9(2): 173-6, 1995 Feb.
Article
em En
| MEDLINE
| ID: mdl-7719345
ABSTRACT
Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have been identified in Crouzon syndrome, an autosomal dominant condition causing premature fusion of the cranial sutures (craniosynostosis). A mutation in FGFR1 has been established in several families with Pfeiffer syndrome, where craniosynostosis is associated with specific digital abnormalities. We now report point mutations in FGFR2 in seven sporadic Pfeiffer syndrome patients. Six of the seven Pfeiffer syndrome patients share two missense mutations, which have also been reported in Crouzon syndrome. The Crouzon and Pfeiffer phenotypes usually breed true within families and the finding of identical mutations in unrelated individuals giving different phenotypes is a highly unexpected observation.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Acrocefalossindactilia
/
Receptores de Fatores de Crescimento de Fibroblastos
/
Receptores Proteína Tirosina Quinases
/
Disostose Craniofacial
Tipo de estudo:
Prognostic_studies
Limite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Nat Genet
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
1995
Tipo de documento:
Article
País de afiliação:
Reino Unido