Identification of a novel nonsense mutation in kyphoscoliosis peptidase gene in an Iranian patient with myofibrillar myopathy  

作　　者：Reza Ebrahimzadeh-Vesal Atieh Teymoori Ali Mohammad Dourandish Mohsen Azimi-Nezhad 

机构地区：[1]Department of Basic Medical Sciences,Neyshabur University of Medical Sciences,Neyshabur,Iran [2]Department of Medical Genetics,School of Medicine,Golestan University of Medical Sciences,Gorgan,Iran [3]Medical Genetics Counseling Center,Neyshabur,Iran [4]Department of Medical Genetics,School of Medicine,Mashhad University of Medical Sciences,Mashhad,Iran

出　　处：《Genes & Diseases》2018年第4期331-334,共4页基因与疾病（英文）

摘　　要：Myofibrillar myopathies(MFMs)are rare genetic and slowly progressive neuromuscular disorders.Several pathogenic mutations have been reported in MFM-related genes including DES,CRYAB,MYOT,LDB3 or ZASP,FLNC,BAG3,FHL1 and DNAJB6.Although MFMs is commonly inherited in an autosomal dominant manner,the inheritance pattern and novel mutated genes are not thoroughly elucidated in some cases.Here,we report discovery of a novel nonsense mutation in a 29-year-old Iranian male patient with motor disorders and deformity in his lower limbs.His parents are second cousins.Hereditary Motor Sensory Neuropathy as initial genetic diagnosis was ruled out.Whole exome sequencing using NGS on Illumina Hi-Seq4000 platform was performed to identify the disease and possible mutated gene(s).Our data analysis identified a homozygous nonsense unreported c.C415T(p.R139X)variant on kyphoscoliosis peptidase(KY)gene(NM_178554:exon4).Sanger sequencing of this mutation has been performed for his other related family members.Sequencing and segregation analysis was confirmed the NGS results and autosomal recessive inheritance pattern of the disease.

关 键 词：Kyphoscoliosis peptidase gene Myofibrillar myopathy Next generation sequencing Novel mutation Rare genetic neuromuscular disorders 

分 类 号：R73[医药卫生—肿瘤]