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.