| | |  | | | | Record from Web of Science® | | | | | | |
| MUTATIONS IN THE FIBROBLAST GROWTH-FACTOR RECEPTOR-2 GENE CAUSE CROUZON-SYNDROME |
|
|
| Author(s): REARDON W, WINTER RM, RUTLAND P, PULLEYN LJ, JONES BM, MALCOLM S |
| Source: NATURE GENETICS Volume: 8 Issue: 1 Pages: 98-103 Published: SEP 1994 |
| Times Cited: 401 References: 37 |
| 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. |
| Document Type: Article |
| Language: English |
| Reprint Address: REARDON, W (reprint author), INST CHILD HLTH, MOTHERCARE UNIT CLIN GENET & FETAL MED, 30 GUILFORD ST, LONDON WC1N 1EH, ENGLAND |
Addresses:
1. INST CHILD HLTH, MOLEC GENET UNIT, LONDON WC1N 1EH, ENGLAND
2. HOSP CHILDREN, DEPT PLAST & RECONSTRUCT SURG, LONDON WC1N 3JN, ENGLAND |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: PE157 |
| ISSN: 1061-4036 |
|
| | | | | | | | | Record from Web of Science® | | | | | | | | | |