A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2.

ABSTRACT:

Background and purpose

Autosomal recessive cerebellar ataxias constitute a highly heterogeneous group of neurodegenerative disorders. This study was carried out to determine the clinical and genetic causes of ataxia in two families from Pakistan.

Methods

Detailed clinical investigations were carried out on probands in two consanguineous families. Magnetic resonance imaging was performed. Exome sequencing data were examined for likely pathogenic variants. Candidate variants were checked for cosegregation with the phenotype using Sanger sequencing. Public databases including ExAC, GnomAD, dbSNP, and the 1,000 Genome Project as well as ethnically matched controls were checked to determine the frequencies of the alleles. Conservation of missense variants was ensured by aligning

SUBMITTER: Tariq H 

PROVIDER: S-EPMC6172491 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature