Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.
Nat Genet
; 9(2): 165-72, 1995 Feb.
Article
em En
| MEDLINE
| ID: mdl-7719344
ABSTRACT
Apert syndrome is a distinctive human malformation comprising craniosynostosis and severe syndactyly of the hands and feet. We have identified specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro253Arg) in the linker between the second and third extracellular immunoglobulin (Ig) domains of fibroblast growth factor receptor 2 (FGFR2) in all 40 unrelated cases of Apert syndrome studied. Crouzon syndrome, characterized by craniosynostosis but normal limbs, was previously shown to result from allelic mutations of the third Ig domain of FGFR2. The contrasting effects of these mutations provide a genetic resource for dissecting the complex effects of signal transduction through FGFRs in cranial and limb morphogenesis.
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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
Ano de publicação:
1995
Tipo de documento:
Article