Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1

被引:5
|
作者
Ichikawa, Yaeko [1 ]
Ishiura, Hiroyuki [1 ]
Mitsui, Jun [1 ]
Takahashi, Yuji [1 ]
Kobayashi, Shunsuke [2 ]
Takuma, Hiroshi [3 ]
Kanazawa, Ichiro
Doi, Koichiro [4 ]
Yoshimura, Jun [4 ]
Morishita, Shinichi [4 ]
Goto, Jun [1 ]
Tsuji, Shoji [1 ]
机构
[1] Univ Tokyo, Dept Neurol, Grad Sch Med, Tokyo 1138655, Japan
[2] Fukushima Med Univ, Sch Med, Dept Neurol, Fukushima, Japan
[3] Univ Tsukuba, Fac Med, Dept Neurol, Tsukuba, Ibaraki 305, Japan
[4] Univ Tokyo, Grad Sch Frontier Sci, Dept Computat Biol, Tokyo 1138654, Japan
关键词
Spinocerebellar ataxia; Autosomal recessive 1; Linkage analysis; Exome analysis; Exon capture; Massively parallel sequencing; SETX; Alpha-fetoprotein;
D O I
10.1016/j.jns.2013.05.018
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Spinocerebellar ataxia autosomal recessive 1 (SCAR1/AOA2) is clinically characterized by an early-onset progressive cerebellar ataxia with axonal neuropathy, ocular motor apraxia, and elevation of serum alpha-fetoprotein level. The disorder is caused by mutations in senataxin (SETX) gene. Here, we report a Japanese SCAR1/AOA2 family with a homozygous nonsense mutation (p.Q1441X) of SETX that was identified by exome sequencing. The family was previously reported as early-onset ataxia of undetermined cause. The present study emphasized the role of whole exome-sequence analysis to establish the molecular diagnosis of neurodegenerative disease presenting with diverse clinical presentations. (C) 2013 Elsevier B.V. All rights reserved.
引用
收藏
页码:158 / 160
页数:3
相关论文
共 50 条
  • [21] Presymptomatic testing for autosomal dominant spinocerebellar ataxia type 1 in a French family
    Lucotte, G
    Sémonin, O
    Mercier, G
    GENETIC COUNSELING, 2001, 12 (02): : 173 - 175
  • [22] Whole exome analysis reveals a novel missense PNPLA1 variant that causes autosomal recessive congenital ichthyosis in a Pakistani family
    Lee, Eunji
    Rahman, Obaid Ur
    Khan, Muhammad Tariq Masood
    Wadood, Abdul
    Naeem, Muhammad
    Kang, Changsoo
    Jelani, Musharraf
    JOURNAL OF DERMATOLOGICAL SCIENCE, 2016, 82 (01) : 46 - 48
  • [23] Autosomal Recessive Spinocerebellar Ataxia Caused by a Novel Homozygous ANO10 Mutation in a Consanguineous Chinese Family
    Yang, Shi-Lin
    Chen, Shu-Fen
    Jiao, Yu-Qiong
    Dong, Zhi-Yuan
    Dong, Qiang
    Han, Xiang
    JOURNAL OF CLINICAL NEUROLOGY, 2020, 16 (02): : 333 - 335
  • [24] Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia
    Dasouki, Majed J.
    Rafi, Syed K.
    Olm-Shipman, Adam J.
    Wilson, Nathan R.
    Abhyankar, Sunil
    Ganter, Brigitte
    Furness, L. Mike
    Fang, Jianwen
    Calado, Rodrigo T.
    Saadi, Irfan
    BLOOD, 2013, 122 (20) : 3440 - 3449
  • [25] A severe form of autosomal recessive spinocerebellar ataxia associated with novel PMPCA variants
    Takahashi, Yoko
    Kubota, Masaya
    Kosaki, Rika
    Kosaki, Kenjiro
    Ishiguro, Akira
    BRAIN & DEVELOPMENT, 2021, 43 (03): : 464 - 469
  • [26] Clinical and genetic findings in a cohort of Chinese patients with autosomal recessive spinocerebellar ataxia
    Guan, Rong-Yuan
    Wu, Jian-Jun
    Ding, Zheng-Tong
    Wang, Jian
    Sun, Yi-Min
    CLINICAL GENETICS, 2020, 97 (03) : 532 - 535
  • [27] A rare case of spinocerebellar ataxia autosomal recessive 21 presented with liver disease
    Zare, Narges
    Saneian, Hosein
    Khademian, Majid
    ADVANCED BIOMEDICAL RESEARCH, 2023, 12 (01):
  • [28] Autosomal Recessive Spinocerebellar Ataxia Type 10: A Report of a New Case in Japan
    Aida, Izumi
    Ozawa, Tetsuo
    Ohta, Kentaro
    Fujinaka, Hidehiko
    Goto, Kiyoe
    Nakajima, Takashi
    INTERNAL MEDICINE, 2021, 61 (16) : 2517 - 2521
  • [29] Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature
    Shukla, Anju
    Upadhyai, Priyanka
    Shah, Jhanvi
    Neethukrishna, K.
    Bielas, Stephanie
    Girisha, K. M.
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2017, 60 (02) : 118 - 123
  • [30] Novel CWF19L1 mutations in patients with spinocerebellar ataxia, autosomal recessive 17
    Phulpagar, Prashant
    Holla, Vikram V.
    Tomar, Deepti
    Kamble, Nitish
    Yadav, Ravi
    Pal, Pramod Kumar
    Muthusamy, Babylakshmi
    JOURNAL OF HUMAN GENETICS, 2023, 68 (12) : 859 - 866