先天性多关节挛缩症新致病基因的发现

Discovery of a novel pathogenic gene for congenital multiple arthrogryposis

目的探讨先天性多关节挛缩症新的致病基因。方法对患有先天性多关节挛缩症的患者进行外周血样全外显子测序,与人类基因组参考序列进行比较分析。结果在6名成员的MYH3基因中发现了一个新的变异体NM_002470.3:外显子24:C.3044_3047,该变异导致氨基酸残基E1015和D1016被一串VNLF取代。结论该项研究增加了MYH3突变的变异谱,为新的致病基因。

Objective To explore the new pathogenic gene of congenital multiple arthrogryposis.Methods The exons of peripheral blood samples from patients with congenital multiple arthrogryposis were sequenced and compared with the reference sequence of human genome.Results A new variant named NM_002470.3c.3044_3047 was found in MYH3 gene of 6 members.This mutation resulted in the substitution of amino acid residues E1015 and D1016 by a series of VNLF.Conclusion This study discovers the mutation spectrum of MYH3 mutation,which is a new pathogenic gene.