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Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele

✍ Scribed by P. Rump; T.G.W. Letteboer; J.J.P. Gille; M.J.L. Torringa; W. Baerts; J.P.J. van Gestel; J.B.G.M. Verheij; A.J. van Essen

Publisher: John Wiley and Sons
Year: 2006
Tongue: English
Weight: 219 KB
Volume: 140A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.31084

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✦ Synopsis

Abstract

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. © 2006 Wiley‐Liss, Inc.

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