TGM6 might not be a specific causative gene for spinocerebellar ataxia resulting from genetic analysis and functional study

To investigate whether TGM6 is a specific causative gene for spinocerebellar ataxia type 35 (SCA35). The next-generation sequencing (NGS) data consisted of 47 SCA, 762 non-SCA patients and 2827 normal controls were analyzed. The allele frequencies of low frequent and deleterious TGM6 variants were compared. Functional studies were performed in five widely distributed variants (V314M, R342Q, P347L, V391M, L517W). Two TGM6 detrimental variants...