1. A Novel TTBK2 Mutation in a Chinese Pedigree with Spinocerebellar Ataxia 11.
- Author
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Lu, Yin-Qian, Chen, Jian-Min, Huang, Ya-Li, and Zou, Zhang-Yu
- Subjects
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FRAMESHIFT mutation , *CEREBELLAR ataxia , *CEREBRAL atrophy , *GENETIC mutation , *SPINOCEREBELLAR ataxia , *GENEALOGY - Abstract
Spinocerebellar ataxia type 11 (SCA11) is a rare disease and the tau tubulin kinase 2 (TTBK2) gene was the causative gene. To date, only six SCA11 families have been reported. Here, we reported a Chinese SCA11 pedigree with cerebellar ataxia. Both patients in the family demonstrated typical clinical features of cerebellar ataxia and cerebellar atrophy on brain MRI. A novel heterozygous duplication mutation (c.1211_1217dupAGGAGAA) of the TTBK2 gene was identified in the proband using whole-exome sequencing (WES), which resulted in a frameshift mutation and formed a premature stop codon (p. N406Kfs*47). The mutation was detected in the proband's affected brother, and his unaffected mother, who with a lower percentage of the mutation and considered as an asymptomatic mutation carrier. Our study delineated the genotypic spectrum of SCA11. [ABSTRACT FROM AUTHOR]
- Published
- 2024
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