To the Editor:Hereditary spastic paraplegia(HSP)is a neurogenetic disorder primarily characterized by progressive spastic paraparesis of the lower limbs and gait abnormalities.It is inherited in an autosomal dominant ...To the Editor:Hereditary spastic paraplegia(HSP)is a neurogenetic disorder primarily characterized by progressive spastic paraparesis of the lower limbs and gait abnormalities.It is inherited in an autosomal dominant manner.This study conducted whole-exome sequencing(WES)on a pedigree of four affected individuals and identified a novel mutation,c.2993-3C>T(exon 27,NM_004984),in the kinesin family member 5A(KIF5A)gene.This study reports firstly the pathogenicity of KIF5A c.2993-3C>T mutation and provides a comprehensive overview of 121 KIF5A mutations reported in the Human Gene Mutation Database(HGMD).展开更多
基金supported by the cultivation fund of Basic&clinical medicine co-construction project of Wuhan University(No.20220218).
文摘To the Editor:Hereditary spastic paraplegia(HSP)is a neurogenetic disorder primarily characterized by progressive spastic paraparesis of the lower limbs and gait abnormalities.It is inherited in an autosomal dominant manner.This study conducted whole-exome sequencing(WES)on a pedigree of four affected individuals and identified a novel mutation,c.2993-3C>T(exon 27,NM_004984),in the kinesin family member 5A(KIF5A)gene.This study reports firstly the pathogenicity of KIF5A c.2993-3C>T mutation and provides a comprehensive overview of 121 KIF5A mutations reported in the Human Gene Mutation Database(HGMD).
