期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 140A, 期 3, 页码 284-290出版社
WILEY-LISS
DOI: 10.1002/ajmg.a.31084
关键词
achondroplasia; FGFR3; skeletal dysplasia; complications; respiratory distress
We describe a unique case of achondroplasia with associated complications, including severe respiratory problems. Molecular analysis of the fibroblast growth factor receptor type 3 (FGFR3) gene in this patient showed the common p.G380R mutation and a second novel p.L377R Mutation. An allele-specific PCR demonstrated that these mutations were on the same allele (cis). Both mutations were not present in the parents and appear to have occurred de novo. To Our knowledge, this is the first report in the literature on an achondroplasia patient with two FGFR3 mutations on the same allele. (c) 2006 Wiley-Liss, Inc.
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