首页|CGG repeat expansion in LOC642361/NUTM2B-AS1 typically presents as oculopharyngodistal myopathy

CGG repeat expansion in LOC642361/NUTM2B-AS1 typically presents as oculopharyngodistal myopathy

扫码查看
原文链接
  • 万方数据
  • 维普
CGG repeat expansions in LOC642361/NUTM2B-AS1 have recently been identified as a cause of oculo-pharyngeal myopathy with leukoencephalopathy.However,since only three patients from a single family were reported,it remains unknown whether their clinicopathological features are typical for CGG repeat expansions in LOC642361/NUTM2B-AS1.Here,using repeat-primed-polymerase chain reaction and long-read sequencing,we identify 12 individuals from 3 unrelated families With CGG repeat expansions in LOC642361/NUTM2B-AS1,typically presenting with oculopharyngodistal myopathy.The CGG repeat ex-pansions range from 161 to 669 repeat units.Most of the patients present with ptosis,restricted eye movements,dysphagia,dysarthria,and diffuse limb muscle weakness.Only one patient shows T2-weighted hyperintensity in the cerebellar white matter surrounding the deep cerebellar nuclei on brain magnetic resonance imaging.Muscle biopsies from three patients show a myopathic pattern and rimmed vacuoles.Analyses of muscle biopsies suggest that CGG repeat expansions in LOC642361/NUTM2B-AS1 may deleteriously affect aggrephagic capacity,suggesting that RNA toxicity and mitochondrial dysfunction may contribute to pathogenesis.Our study thus expands the phenotypic spectrum for the CGG repeat expansion of LOC642361/NUTM2B-AS1 and indicates that this genetic variant typically manifests as oculopharyngodistal myopathy with chronic myopathic changes with rimmed vacuoles and filamentous intranuclear inclusions in muscle fibers.

Oculopharyngeal myopathy with leukoencephalopathyOculopharyngodistal myopathyCGG repeat expansionRimmed vacuoles

Yan Shi、Chunyan Cao、Yiheng Zeng、Yuanliang Ding、Long Chen、Fuze Zheng、Xuejiao Chen、Fanggui Zhou、Xiefeng Yang、Jinjing Li、Liuqing Xu、Guorong Xu、Minting Lin、Hiroyuki Ishiura、Shoji Tsuji、Ning Wang、Zhiqiang Wang、Wan-Jin Chen、Kang Yang

展开 >

Department of Neurology and Institute of Neurology of First Affiliated Hospital,Institute of Neuroscience,Fujian Key Laboratory of Molecular Neurology,Fujian Medical University,Fuzhou,Fujian 350005,China

Department of Neurology,National Regional Medical Center,Binhai Campus of the First Affiliated Hospital,Fujian Medical University,Fuzhou,Fujian 350212,China

The First Affiliated Hospital,College of Clinical Medicine of Henan University of Science and Technology,Luoyang,Henan 471000,China

Department of Neurology,Zhangzhou Municipal Hospital of Fujian Province and Zhangzhou Affiliated Hospital of Fujian Medical University,Zhangzhou,Fujian 363000,China

Department of Neurology,Jian'ou Municipal Hospital of Fujian Province,Jian'ou,Fujian 353100,China

Department of Radiology,First Affiliated Hospital of Fujian Medical University,Fuzhou,Fujian 350005,China

Department of Neurology,Graduate School of Medicine,The University of Tokyo,Tokyo 113-8655,Japan

Department of Neurology,Okayama University Graduate School of Medicine,Dentistry and Pharmaceutical Sciences,Okayama 700-8558,Japan

Institute of Medical Genomics,International University of Health and Welfare,Chiba 286-0048,Japan

展开 >

National Natural Science Foundation of China,includingNational Natural Science Foundation of China,includingNational Natural Science Foundation of China,includingNational Natural Science Foundation of China,includingNational Natural Science Foundation of China,includingNational Natural Science Foundation of China,includingNational Key Research and Development Program of ChinaNational Key Research and Development Program of ChinaJoint Funds for the Innovation of Science and Technology of Fujian ProvinceJoint Funds for the Innovation of Science and Technology of Fujian ProvinceFujian Provincial Health Technology projectsMajor Scientific Research Program for Middleaged and Young Scientists of Fujian ProvinceLocal Science and Technology Development Project guided by the central governmentfrom Fujian Medical University Affiliated First Hospital Talent Recruitment Research InitiationKey Clinical Specialty Discipline Construction Program of Fujian(to N.W.)

82025012U190521082230039U200520181974193820012172022YFC27039002022YFC27039042021Y90112020Y90162022ZD010022021ZQNZD0032020L3010YJRC4185

2024

10.1016/j.jgg.2023.12.009

遗传学报
中国遗传学会 中国科学院遗传与发育生物学研究所

遗传学报

CSTPCD
影响因子：0.821
ISSN：1673-8527
年,卷(期)：2024.51(2)
  • 55