Format

Send to

Choose Destination
See comment in PubMed Commons below
Nat Genet. 1994 Sep;8(1):98-103.

Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.

Author information

1
Mothercare Unit of Clinical Genetics and Fetal Medicine, Institute of Child Health, London, UK.

Abstract

Crouzon syndrome is an autosomal dominant condition causing premature fusion of the cranial sutures (craniosynostosis) and maps to chromosome 10q25-q26. We now present evidence that mutations in the fibroblast growth factor receptor 2 gene (FGFR2) cause Crouzon syndrome. We found SSCP variations in the B exon of FGFR2 in nine unrelated affected individuals as well as complete cosegregation between SSCP variation and disease in three unrelated multigenerational families. In four sporadic cases, the normal parents did not have SSCP variation. Finally, direct sequencing has revealed specific mutations in the B exon in all nine sporadic and familial cases, including replacement of a cysteine in an immunoglobulin-like domain in five patients.

PMID:
7987400
DOI:
10.1038/ng0994-98
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Nature Publishing Group
    Loading ...
    Support Center