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

Michael D Perry; Martin J Evans; Philip J Byrd; Malcolm R Taylor

doi:10.1055/s-0040-1713909

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

J Pediatr Genet. 2020 Jul 20;10(4):311-314. doi: 10.1055/s-0040-1713909. eCollection 2021 Dec.

Authors

Michael D Perry¹, Martin J Evans^{1

2}, Philip J Byrd³, Malcolm R Taylor³

Affiliations

¹ Department of Medical Education, St George's Hospital Medical School, University of London, London, United Kingdom.
² Department of Postgraduate Medical Education, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.
³ Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom.

Abstract

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 SETX 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 SETX mutations, one of which is novel. We then discussed two further likely "in cis" SETX sequence changes (previously reported in the literature as pathogenic), and presented the case that they are likely benign polymorphisms.

Keywords: AOA2; ataxia; senataxin.

Publication types

Case Reports