Novel FGFR3 mutations in exon 7 and implications for expanded screening of achondroplasia and hypochondroplasia: a response to Heuertz et al

摘要

We read with great interest the study by Heuertz et al in European Journal Human Genetics presenting novel FGFR3 mutations causing achondroplasia (ACH) and hypochondroplasia (HCH). We agree with the authors' recommendation to expand the screening for patients with the clinical features of ACH or HCH who lack the most common variants of the disorders. Specifically, the presence in exon 7 of four out of seven mutations (S279C, Y278C, G268C, and N262H) has particular relevance because exon 7 is routinely sequenced for mutations indicative of craniosy-nostosis and thanatophoric dysplasia. Therefore, expanded screening of exon 7 is straightforward using existing protocols.