Novel Compound Heterozygous Mutations in the SYNE1 Gene in a Taiwanese Family: A Case Report and Literature Review
| العنوان: | Novel Compound Heterozygous Mutations in the SYNE1 Gene in a Taiwanese Family: A Case Report and Literature Review |
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| المؤلفون: | Chia-Yan Kuo, Pei Shan Yu, Chih-Ying Chao, Chun-Chieh Wang, Wen-Lang Fan, Yih-Ru Wu |
| المصدر: | Journal of Movement Disorders. 16:202-206 |
| بيانات النشر: | The Korean Movement Disorder Society, 2023. |
| سنة النشر: | 2023 |
| مصطلحات موضوعية: | Neurology, Neurology (clinical) |
| الوصف: | 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. |
| تدمد: | 2093-4939 2005-940X |
| DOI: | 10.14802/jmd.22105 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_________::a855191ec119554bb1502c50dbbd40b1 https://doi.org/10.14802/jmd.22105 |
| Rights: | OPEN |
| رقم الانضمام: | edsair.doi...........a855191ec119554bb1502c50dbbd40b1 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 20934939 2005940X |
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| DOI: | 10.14802/jmd.22105 |