Mutation analysis of fibroblast growth factor receptor 3 gene in an achondroplasia family

Objective To clarify the patients' pathogenic mechanism in an achondroplasia family not according with the genetic law of autosomal dominant inheritance disease at gene level. Methods Genomic DNA from peripheral blood of all members in this family was used for amplification of the exon 10 of fibroblast growth factor receptor 3(FGFR3) gene by PCR; mutation was detected by DNA sequencing and identified by restriction endonuclease MaeIII. Results A new mutation of A to T at nucleotide 1180 was found in patients but not in unaffected members. Conclusion Combined with pedigree analysis, it was summarized that achondroplasia patients in this family might result from this new mutation.