Biallelic Mutation of and Additional Likely "In Cis" Sequence Change in Ataxia with Oculomotor Apraxia Type 2.

Ataxia with oculomotor apraxia type 2 (AOA2) is a slowly progressive, autosomal recessive disease characterized by the triad of ataxia, oculomotor apraxia, and sensorimotor neuropathy. The genetic basis of AOA2 is biallelic mutation of the gene, resulting in reduced or absent senataxin, a DNA/RNA repair protein essential for genomic stability. In this case report, we described a case of AOA2 with two clear pathogenic mutations, one of which is novel. We then discussed two further likely "in cis" sequence changes (previously reported in the literature as pathogenic), and presented the case that they are likely benign polymorphisms.