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Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia

2013; Wiley; Volume: 85; Issue: 3 Linguagem: Inglês

10.1111/cge.12140

1399-0004

Hirofumi Maruyama, Hiroyuki Morino, Ryosuke Miyamoto, Norihiro Murakami, T. Hamano, Hideshi Kawakami,

Genetics and Neurodevelopmental Disorders

Clinical GeneticsVolume 85, Issue 3 p. 296-297 LETTER TO THE EDITOR Exome sequencing reveals a novel ANO10 mutation in a Japanese patient with autosomal recessive spinocerebellar ataxia H. Maruyama, Corresponding Author H. Maruyama Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan Correspondence: Hirofumi Maruyama, MD, PhD Department of Epidemiology Research Institute for Radiation Biology and Medicine Hiroshima University 1-2-3, Kasumi, Minami-ku Hiroshima 734-8553 Japan Tel.: +81 82 2575847 Fax: +81 82 2575848 e-mail: [email protected]Search for more papers by this authorH. Morino, H. Morino Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, JapanSearch for more papers by this authorR. Miyamoto, R. Miyamoto Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, JapanSearch for more papers by this authorN. Murakami, N. Murakami Department of Neurology, Kansai Electric Power Hospital, Osaka, JapanSearch for more papers by this authorT. Hamano, T. Hamano Department of Neurology, Kansai Electric Power Hospital, Osaka, JapanSearch for more papers by this authorH. Kawakami, H. Kawakami Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, JapanSearch for more papers by this author H. Maruyama, Corresponding Author H. Maruyama Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan Correspondence: Hirofumi Maruyama, MD, PhD Department of Epidemiology Research Institute for Radiation Biology and Medicine Hiroshima University 1-2-3, Kasumi, Minami-ku Hiroshima 734-8553 Japan Tel.: +81 82 2575847 Fax: +81 82 2575848 e-mail: [email protected]Search for more papers by this authorH. Morino, H. Morino Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, JapanSearch for more papers by this authorR. Miyamoto, R. Miyamoto Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, JapanSearch for more papers by this authorN. Murakami, N. Murakami Department of Neurology, Kansai Electric Power Hospital, Osaka, JapanSearch for more papers by this authorT. Hamano, T. Hamano Department of Neurology, Kansai Electric Power Hospital, Osaka, JapanSearch for more papers by this authorH. Kawakami, H. Kawakami Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, JapanSearch for more papers by this author First published: 04 April 2013 https://doi.org/10.1111/cge.12140Citations: 18Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. References 1Vermeer S, Hoischen A, Meijer RPP et al. Targeted next-generation sequencing of a 12.5Mb Homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. Am J Hum Genet 2010: 87: 813–819. 10.1016/j.ajhg.2010.10.015 CASPubMedWeb of Science®Google Scholar 2Chamova T, Florez L, Guergueltcheva V et al. ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies. J Neurol 2012: 259: 906–911. 10.1007/s00415-011-6276-6 PubMedWeb of Science®Google Scholar 3Anheim M, Tranchant C, Koenig M. The autosomal recessive cerebellar ataxias. N Engl J Med 2012: 366: 636–646. 10.1056/NEJMra1006610 CASPubMedWeb of Science®Google Scholar 4Maruyama H, Izumi Y, Morino H et al. Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: a study of 1286 Japanese patients. Am J Med Genet 2002: 114: 578–583. 10.1002/ajmg.10514 CASPubMedWeb of Science®Google Scholar 5Izumi Y, Miyamoto R, Morino H et al. Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease. Neurology 2013: 80: 600–601. 10.1212/WNL.0b013e3182815529 PubMedWeb of Science®Google Scholar Citing Literature Volume85, Issue3March 2014Pages 296-297 ReferencesRelatedInformation