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Original Research ARTICLE Provisionally accepted The full-text will be published soon. Notify me

Front. Neurol. | doi: 10.3389/fneur.2018.01111

Identifying SYNE1 ataxia with novel mutations in a Chinese population

Yun Peng1, Wei Ye1,  Zhao Chen1, Huirong Peng1, Puzhi Wang1, Xuan Hou1, Chunrong Wang1, Xin Zhou1, Xiaocan Hou1, Tianjiao Li1, Qong Qiu2, Zhengmao Hu3,  Beisha Tang1 and  Hong Jiang1*
  • 1Xiangya Hospital, Central South University, China
  • 2School of Information Science and Engineering, Central South University, China
  • 3State Key Laboratory of Medical Genetics, Central South University, China

Objective: Variants in SYNE1 have been widely reported in ataxia patients in Europe, with highly variable clinical phenotype. Till now, no mutation of SYNE1 ataxia has been reported among the Chinese population. Our aim was to screen for SYNE1 ataxia patients in China and extend the clinicogenetic spectrum.

Methods: Variants in SYNE1 were detected by high-throughput sequencing on a cohort of 126 unrelated index patients with unexplained autosomal recessive or sporadic ataxia. Pathogenicity assessments of SYNE1 variants were interpreted according to the ACMG guidelines. Potential pathogenic variants were confirmed by Sanger sequencing. Clinical assessments were conducted by two experienced neurologists.

Results: Two Chinese families with variable ataxia syndrome were identified (accounting for 1.6%; 2/126), separately caused by the novel homozygous SYNE1 mutation (NM_033071.3:c.21568C>T, p.Arg7190Ter), and compound heterozygous SYNE1 mutation (NM_033071.3: c.18684G>A, p.Trp6228Ter; c.17944C>T, p.Arg5982Ter), characterized by motor neuron impairment, mental retardation and arthrogryposis.

Conclusions: SYNE1 ataxia exists in the Chinese population, as a rare form of autosomal recessive ataxia, with a complex phenotype. Our findings expanded the ethnic, phenotypic and genetic diversity of SYNE1 ataxia.

Keywords: Cerebellar Ataxia, SYNE1, Mutation, High-Throughput Nucleotide Sequencing, Genotype–phenotype

Received: 16 Sep 2018; Accepted: 04 Dec 2018.

Edited by:

Giuseppe De Michele, University of Naples Federico II, Italy

Reviewed by:

Yih-Ru Wu, Chang Gung Memorial Hospital, Taiwan
Cyril Goizet, Université de Bordeaux, France
Mario U. Manto, University of Mons, Belgium  

Copyright: © 2018 Peng, Ye, Chen, Peng, Wang, Hou, Wang, Zhou, Hou, Li, Qiu, Hu, Tang and Jiang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Dr. Hong Jiang, Xiangya Hospital, Central South University, Changsha, China, jianghong73868@126.com