一个患有常染色体隐性遗传性8型小脑共济失调的日本家族中，一种新型的移码突变。
A novel frameshift mutation of in a Japanese family with autosomal recessive cerebellar ataxia type 8.
作者信息
Yoshinaga Tsuneaki, Nakamura Katsuya, Ishikawa Masumi, Yamaguchi Tomomi, Takano Kyoko, Wakui Keiko, Kosho Tomoki, Yoshida Kunihiro, Fukushima Yoshimitsu, Sekijima Yoshiki
机构信息
Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.
Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto, Japan.
出版信息
Hum Genome Var. 2017 Oct 26;4:17052. doi: 10.1038/hgv.2017.52. eCollection 2017.
A Japanese family with autosomal recessive cerebellar ataxia type 8 (SCAR8, MIM 610743) is described. We identified a novel frameshift deletion (c.6843del, p.Q2282Sfs*3). This family shared similar clinical manifestations characterized by adult-onset, relatively pure cerebellar ataxia with mild eye movement abnormality. Intelligence and bulbar and respiratory functions were unaffected. This study suggests the clinical utility of using panel-based exome sequencing for genetic diagnosis in hereditary ataxias in a cost-efficient manner.
本文描述了一个患有常染色体隐性遗传性8型小脑共济失调（SCAR8，MIM 610743）的日本家庭。我们鉴定出一种新的移码缺失（c.6843del，p.Q2282Sfs*3）。该家庭具有相似的临床表现，其特征为成人起病、相对单纯的小脑共济失调以及轻度眼球运动异常。智力、延髓和呼吸功能未受影响。本研究表明，基于基因panel的外显子组测序在以经济高效的方式进行遗传性共济失调的基因诊断中具有临床应用价值。
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