Two novel missense variants in SPTBN2 likely associated with spinocerebellar ataxia type 5.

Xianli BianShang WangSuqin JinShunliang XuHong ZhangDewei WangWei ShangPing Wang

Published in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2021)

We identified two novel heterozygous variants of SPTBN2 resulting in severe ataxia which further delineated the correlation between the genotype and phenotype of SCA5, and pathogenesis of variants in SPTBN2 should be further researched.

Keyphrases

early onset
copy number
gene expression
genome wide