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

Rump P, Letteboer TG, Gille JJ, Torringa MJ, Baerts W, van Gestel JP, Verheij JB, van Essen AJ

Department of Clinical Genetics, University Medical Center Groningen, University of Groningen, The Netherlands. p.rump@medgen.umcg.nl

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.

Published 26 January 2006 in Am J Med Genet A, 140(3): 284-90.
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