Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15).

ABSTRACT:

Background

Homozygous frameshift mutation in RUBCN (KIAA0226), known to result in endolysosomal machinery defects, has previously been reported in a single Saudi family with autosomal recessive spinocerebellar ataxia (Salih ataxia, SCAR15, OMIM # 615705). The present report describes the clinical, neurophysiologic, neuroimaging, and genetic findings in a second unrelated Saudi family with two affected children harboring identical homozygous frameshift mutation in the gene. It also explores and documents an ancient founder cerebellar ataxia mutation in the Arabian Peninsula.

Case presentation

The present family has two affected males (aged 6.5 and 17 years) with unsteady gait apparent since learning to walk at 2.5 and 3 years, respectively. The younger patient showed gait ata

SUBMITTER: Seidahmed MZ 

PROVIDER: S-EPMC7249383 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature