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| ACHONDROPLASIA IS DEFINED BY RECURRENT G380R MUTATIONS OF FGFR3 |
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| Author(s): BELLUS GA, HEFFERON TW, DELUNA RIO, HECHT JT, HORTON WA, MACHADO M, KAITILA I, MCINTOSH I, FRANCOMANO CA |
| Source: AMERICAN JOURNAL OF HUMAN GENETICS Volume: 56 Issue: 2 Pages: 368-373 Published: FEB 1995 |
| Times Cited: 200 References: 52 |
| Abstract: Genomic DNA from 154 unrelated individuals with achondroplasia was evaluated for mutations in the fibroblast growth factor receptor 3 (FGFR3) transmembrane domain. AU but one, an atypical case, were found to have a glycine-to-arginine substitution at codon 380. Of these, 150 had a G-to-A transition at nt 1138, and 3 had a G-to-C transversion at this same position. On the basis of estimates of the prevalence of achondroplasia, the mutation rate at the FGFR3 1138 guanosine nucleotide is two to three orders of magnitude higher than that previously reported for tranversions and transitions in CpG dinucleotides. To date, this represents the most mutable single nucleotide reported in the human genome. The homogeneity of mutations in achondroplasia is unprecedented for an autosomal dominant disorder and may explain the relative lack of heterogeneity in the achondroplasia phenotype. |
| Document Type: Article |
| Language: English |
Addresses:
1. NIH, NATL CTR HUMAN GENOME RES, MED GENET BRANCH, BETHESDA, MD 20892 USA
2. HOSP INFANTIL MEXICO FED GOMEZ, DEPT GENET, MEXICO CITY, DF MEXICO
3. JOHNS HOPKINS UNIV, SCH MED, CTR MED GENET, BALTIMORE, MD 21205 USA
4. UNIV TEXAS, SCH MED, DEPT PEDIAT, HOUSTON, TX USA
5. SHRINERS HOSP CRIPPLED CHILDRENS, DEPT RES, PORTLAND, OR 97201 USA
6. HELSINKI UNIV HOSP, DEPT CLIN GENET, HELSINKI, FINLAND |
| Publisher: UNIV CHICAGO PRESS, 5720 S WOODLAWN AVE, CHICAGO, IL 60637 |
| Subject Category: Genetics & Heredity |
| IDS Number: QF423 |
| ISSN: 0002-9297 |
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