Article
Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele.
American journal of medical genetics. Part A - 1 Feb 2006
Rump P, Letteboer T G W, Gille J J P, Torringa M J L, Baerts W, van Gestel J P J, Verheij J B G M, van Essen A J
Abstract excerpt
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...
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