A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype.

ABSTRACT:

Background

Biallelic STUB1 variants are a well-established cause of autosomal-recessive early-onset multisystemic ataxia (SCAR16). Evidence for STUB1 variants causing autosomal-dominant ataxia (SCA48) so far largely relies on segregation data in larger families. Presenting the first de novo occurrence of a heterozygous STUB1 variant, we here present additional qualitative evidence for STUB1-disease as an autosomal-dominant disorder.

Methods

Whole exome sequencing on an index patient with sporadic early-onset ataxia, followed by Sanger sequencing in all family members, was used to identify causative variants as well as to rule out alternative genetic hits and intronic STUB1 variants. STUB1 mRNA and protein levels in PBMCs in all family members were analysed using qRT-PCR and

SUBMITTER: Mengel D 

PROVIDER: S-EPMC8463406 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature