Novel Compound Heterozygous Mutations in the SYNE1 Gene in a Taiwanese Family: A Case Report and Literature Review

Abstract

Mutations in the synaptic nuclear envelope protein 1 (<i>SYNE1</i>) gene are associated with substantial clinical heterogeneity. Here, we report the first case of <i>SYNE1</i> 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 <i>SYNE1</i> ataxia among East Asian populations is low. In this study, we identified 27 cases of <i>SYNE1</i> 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 <i>SYNE1</i> mutational spectrum.