A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.
Nat Genet
; 8(3): 269-74, 1994 Nov.
Article
em En
| MEDLINE
| ID: mdl-7874169
ABSTRACT
Pfeiffer syndrome (PS) is one of the classic autosomal dominant craniosynostosis syndromes with craniofacial anomalies and characteristic broad thumbs and big toes. We have previously mapped one of the genes for PS to the centromeric region of chromosome 8 by linkage analysis. Here we present evidence that mutations in the fibroblast growth factor receptor-1 (FGFR1) gene, which maps to 8p, cause one form of familial Pfeiffer syndrome. A C to G transversion in exon 5, predicting a proline to arginine substitution in the putative extracellular domain, was identified in all affected members of five unrelated PS families but not in any unaffected individuals. FGFR1 therefore becomes the third fibroblast growth factor receptor to be associated with an autosomal dominant skeletal disorder.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Polegar
/
Anormalidades Múltiplas
/
Dedos do Pé
/
Receptores de Fatores de Crescimento de Fibroblastos
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Mutação Puntual
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Receptores Proteína Tirosina Quinases
/
Craniossinostoses
Tipo de estudo:
Prognostic_studies
Limite:
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
1994
Tipo de documento:
Article