Founder mutation in RUBCN gene in a second family confirms Salih ataxia (scar15)

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). This consanguineous Saudi Arabian family had 3 sisters with unsteady gait apparent since learning to walk in two and around age 7 years in the third. Two developed epilepsy in infancy which was responsive...