A homozygous nonsense mutation in DNAJC30 causes Leber’s hereditary optic neuropathy with Leigh-like phenotypes  

作　　者：Chao Shen Kitty Wang Wei Li Alvaro Serrano Kelly Powers Chengwan Zhang Jianjun Chen Miao Sun 

机构地区：[1]Department of Systems Biology,Beckman Research Institute of City of Hope,Monrovia,CA 91016,USA [2]Division of Medical Genetics,Department of Pediatrics,Children’s Hospital Los Angeles/Keck School of Medicine of USC,Los Angeles,CA 90027,USA [3]Division of Neurology,Children’s Hospital Los Angeles,Los Angeles,CA 90027,USA [4]Division of Genomic Medicine,Department of Pathology and Laboratory Medicine,Children’s Hospital Los Angeles/Keck School of Medicine of USC,Los Angeles,CA 90027,USA

出　　处：《Genes & Diseases》2023年第4期1165-1168,共4页基因与疾病（英文）

基　　金：supported in part by the U.S.National Institutes of Health R01 grants(No.CA236399,CA243386,CA271497,DK124116)to J.C.,and the Simms/Mann Family Foundation to J.C.

摘　　要：Nuclear encoded genes can cause early-onset mitochon-dria-related disorders such as Leigh or Leigh-like syndrome.Defects in DNAJC30 have been implicated in mitochondria-related diseases such as Leber’s hereditary optic neuropa-thy(LHON)and Williams syndrome(WS).However,the role of DNAJC30 in disease progression concerning mitochon-drial dysfunction has yet to be fully understood.Here we report a 12-year-old boy with acute dystonia onset at age 10.

关 键 词：LEIGH LEBER acute 

分 类 号：R73[医药卫生—肿瘤]