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| A COMMON MUTATION IN THE FIBROBLAST GROWTH-FACTOR RECEPTOR-1 GENE IN PFEIFFER-SYNDROME |
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| Author(s): MUENKE M, SCHELL U, HEHR A, ROBIN NH, LOSKEN HW, SCHINZEL A, PULLEYN LJ, RUTLAND P, REARDON W, MALCOLM S, WINTER RM |
| Source: NATURE GENETICS Volume: 8 Issue: 3 Pages: 269-274 Published: NOV 1994 |
| Times Cited: 370 References: 29 |
| Abstract: Pfeiffer syndrome (PS) is one of the classic autosomal dominant craniosynostosis syndromes with craniofacial anomalies and characteristic broad thumbs and big toes. We have previously mapped one of the genes for PS to the centromeric region of chromosome 8 by linkage analysis. Here we present evidence that mutations in the fibroblast growth factor receptor-1 (FGFR1) gene, which maps to 8p, cause one form of familiar Pfeiffer syndrome. A C to G transversion in exon 5, predicting a proline to arginine substitution in the putative extracellular domain, was identified in all affected members of five unrelated PS families but not in any unaffected individuals. FGFR1 therefore becomes the third fibroblast growth factor receptor to be associated with an autosomal dominant skeletal disorder. |
| Document Type: Article |
| Language: English |
| Reprint Address: MUENKE, M (reprint author), UNIV PENN, SCH MED, CHILDRENS HOSP PHILADELPHIA, PHILADELPHIA, PA 19104 USA |
Addresses:
1. UNIV PENN, SCH MED, DEPT PEDIAT, DIV HUMAN GENET & MOLEC BIOL, PHILADELPHIA, PA 19104 USA
2. UNIV PENN, SCH MED, DEPT GENET, PHILADELPHIA, PA 19104 USA
3. UNIV PITTSBURGH, DEPT PLAST SURG, PITTSBURGH, PA 15261 USA
4. INST MED GENET, ZURICH, SWITZERLAND
5. INST CHILD HLTH, MOTHERCARE UNIT CLIN GENET, LONDON WC1N 1EH, ENGLAND
6. INST CHILD HLTH, GENET UNIT, LONDON WC1N 1EH, ENGLAND |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: PP765 |
| ISSN: 1061-4036 |
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