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.
journal_name
Nat Genetjournal_title
Nature geneticsauthors
Reardon W,Winter RM,Rutland P,Pulleyn LJ,Jones BM,Malcolm Sdoi
10.1038/ng0994-98subject
Has Abstractpub_date
1994-09-01 00:00:00pages
98-103issue
1eissn
1061-4036issn
1546-1718journal_volume
8pub_type
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