J Mov Disord.
2023 May;16(2):202-206. 10.14802/jmd.22105.
Novel Compound Heterozygous Mutations in the SYNE1 Gene in a Taiwanese Family: A Case Report and Literature Review
- Affiliations
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- 1Chang Gung University, College of Medicine, Tauyuan, Taiwan
- 2Department of Neurology, Chang Gung Memorial Hospital, Linkou Medical Center, Tauyuan, Taiwan
- 3Department of Medical Research, Kaohsiung Chang Gung Memorial Hospital, Kaohsiung, Taiwan
- 4Genomic Medicine Core Laboratory, Chang Gung Memorial Hospital, Linkou Medical Center, Taoyuan, Taiw
- KMID: 2542425
- DOI: http://doi.org/10.14802/jmd.22105
Abstract
- Mutations in the synaptic nuclear envelope protein 1 (SYNE1) gene are associated with substantial clinical heterogeneity. Here, we report the first case of SYNE1 ataxia in Taiwan due to two novel truncating mutations. Our patient, a 53-year-old female, exhibited pure cerebellar ataxia with c.1922del in exon 18 and c. C3883T mutations in exon 31. Previous studies have indicated that the prevalence of SYNE1 ataxia among East Asian populations is low. In this study, we identified 27 cases of SYNE1 ataxia from 22 families in East Asia. Of the 28 patients recruited in this study (including our patient), 10 exhibited pure cerebellar ataxia, and 18 exhibited ataxia plus syndromes. We could not find an exact correlation between genotypes and phenotypes. Additionally, we established a precise molecular diagnosis in our patient’s family and extended the findings on the ethnic, phenotypic, and genotypic diversity of the SYNE1 mutational spectrum.
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