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

作者机构：Department of Systems BiologyBeckman Research Institute of City of HopeMonroviaCA 91016USA Division of Medical GeneticsDepartment of PediatricsChildren’s Hospital Los Angeles/Keck School of Medicine of USCLos AngelesCA 90027USA Division of NeurologyChildren’s Hospital Los AngelesLos AngelesCA 90027USA Division of Genomic MedicineDepartment of Pathology and Laboratory MedicineChildren’s Hospital Los Angeles/Keck School of Medicine of USCLos AngelesCA 90027USA 

出 版 物：《Genes & Diseases》 (基因与疾病（英文）)

年 卷 期：2023年第10卷第4期

页      面：1165-1168页

核心收录：

学科分类：0710[理学-生物学] 07[理学] 071007[理学-遗传学] 

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 

主　　题：Leigh Leber acute 

摘      要：Nuclear encoded genes can cause early-onset mitochon-dria-related disorders such as Leigh or Leigh-like *** 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 *** we report a 12-year-old boy with acute dystonia onset at age 10.