Summary Summary Short summary of a recent publication, written by scientific experts. Published: 21 Dec 2018

MRE11A deficiency is associated with ataxia-telangiectasia-like disorder

Takeaway

  • MRE11A protein deficiencies are associated with the clinical characteristics of ataxia-telangiectasia-like disorder (ATLD), providing a potential mechanistic basis for ataxia pathology.

Why this matters

    Previously, ATLD has been associated with mutations in MRE11. This is the first study to shed light on the role of a disease-causing MRE11 variant in ATLD.