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| IDENTICAL MUTATIONS IN THE FGFR2 GENE CAUSE BOTH PFEIFFER AND CROUZON SYNDROME PHENOTYPES |
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| Author(s): RUTLAND P, PULLEYN LJ, REARDON W, BARAITSER M, HAYWARD R, JONES B, MALCOLM S, WINTER RM, OLDRIDGE M, SLANEY SF, POOLE MD, WILKIE AOM |
| Source: NATURE GENETICS Volume: 9 Issue: 2 Pages: 173-176 Published: FEB 1995 |
| Times Cited: 289 References: 18 |
| Abstract: Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have been identified in Crouzon syndrome, an autosomal dominant condition causing premature fusion of the cranial sutures (craniosynostosis). A mutation in FGFR1 has been established in several families with Pfeiffer syndrome, where craniosynostosis is associated with specific digital abnormalities. We now report point mutations in FGFR2 in seven sporadic Pfeiffer syndrome patients. Six of the seven Pfeiffer syndrome patients share two missense mutations, which have also been reported in Crouzon syndrome. The Crouzon and Pfeiffer phenotypes usually breed true within families and the finding of identical mutations in unrelated individuals giving different phenotypes is a highly unexpected observation. |
| Document Type: Article |
| Language: English |
Addresses:
1. INST CHILD HLTH, GENET & FETAL MED CLIN, MOTHERCARE UNIT, LONDON WC1N 1EH, ENGLAND
2. INST CHILD HLTH, MOLEC GENET UNIT, LONDON WC1N 1EH, ENGLAND
3. GREAT ORMOND ST HOSP CHILDREN, DEPT NEUROSURG, LONDON, ENGLAND
4. GREAT ORMOND ST HOSP CHILDREN, CRANIOFACIAL UNIT, LONDON, ENGLAND
5. JOHN RADCLIFFE HOSP, INST MOLEC MED, OXFORD OX3 9DU, ENGLAND
6. CHURCHILL HOSP, DEPT MED GENET, OXFORD OX3 7LJ, ENGLAND
7. RADCLIFFE INFIRM, OXFORD CRANIOFACIAL UNIT, OXFORD OX2 6HE, ENGLAND |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: QE672 |
| ISSN: 1061-4036 |
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