A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8

Tsuneaki Yoshinaga; Katsuya Nakamura; Masumi Ishikawa; Tomomi Yamaguchi; Kyoko Takano; Keiko Wakui; Tomoki Kosho; Kunihiro Yoshida; Yoshimitsu Fukushima; Yoshiki Sekijima

doi:10.1038/hgv.2017.52

A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8

Hum Genome Var. 2017 Oct 26:4:17052. doi: 10.1038/hgv.2017.52. eCollection 2017.

Authors

Tsuneaki Yoshinaga^{1

2}, Katsuya Nakamura^{1

2}, Masumi Ishikawa¹, Tomomi Yamaguchi^{1

3}, Kyoko Takano^{1

3}, Keiko Wakui^{1

3}, Tomoki Kosho^{1

3}, Kunihiro Yoshida^{2

4}, Yoshimitsu Fukushima^{1

3}, Yoshiki Sekijima²

Affiliations

¹ Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.
² Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto, Japan.
³ Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.
⁴ Division of Neurogenetics, Department of Brain Disease Research, Shinshu University School of Medicine, Matsumoto, Japan.

Abstract

A Japanese family with autosomal recessive cerebellar ataxia type 8 (SCAR8, MIM 610743) is described. We identified a novel SYNE1 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.