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| THANATOPHORIC DYSPLASIA (TYPE-I AND TYPE-II) CAUSED BY DISTINCT MUTATIONS IN FIBROBLAST GROWTH-FACTOR RECEPTOR-3 |
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| Author(s): TAVORMINA PL, SHIANG R, THOMPSON LM, ZHU YZ, WILKIN DJ, LACHMAN RS, WILCOX WR, RIMOIN DL, COHN DH, WASMUTH JJ |
| Source: NATURE GENETICS Volume: 9 Issue: 3 Pages: 321-328 Published: MAR 1995 |
| Times Cited: 345 References: 37 |
| Abstract: Thanatophoric dysplasia (TD), the most common neonatal lethal skeletal dysplasia, affects one out of 20,000 live births. Affected individuals display features similar to those seen in homozygous achondroplasia. Mutations causing achondroplasia are in FGFR3, suggesting that mutations in this gene may cause TD. A sporadic mutation causing a Lys650Glu change in the tyrosine kinase domain of FGFR3 was found in 16 of 16 individuals with one type of TD. Of 39 individuals with a second type of TD, 22 had a mutation causing an Arg248Cys change and one had a Ser371Cys substitution, both in the extracellular region of the protein. None of these mutations were found in 50 controls showing that mutations affecting different functional domains of FGFR3 cause different forms of this lethal disorder. |
| Document Type: Article |
| Language: English |
Addresses:
1. UNIV CALIF IRVINE, DEPT BIOL CHEM, IRVINE, CA 92717 USA
2. UNIV CALIF IRVINE, HUMAN GENOME RES CTR, IRVINE, CA 92717 USA
3. UNIV CALIF LOS ANGELES, SCH MED, DEPT PEDIAT, LOS ANGELES, CA 90048 USA
4. UNIV CALIF LOS ANGELES, SCH MED, CEDARS SINAI RES INST, LOS ANGELES, CA 90048 USA |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: QL232 |
| ISSN: 1061-4036 |
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