OCRL and Spinocerebellar ataxia with axonal neuropathy type 2: Sequencing revealed a homozygous splice site mutation in SETX, which is known to cause Spinocerebellar Ataxia, Autosomal Recessive 1 (SCAR1), as well as a missense mutation in a highly conserved position of the OCRL gene, which causes Lowe Syndrome and Dent Disease 2.