Original Research ARTICLE
Identifying SYNE1 ataxia with novel mutations in a Chinese population
- 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, firstname.lastname@example.org