Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant.

ABSTRACT:

Objective

We report 3 siblings with the characteristic features of ataxia-telangiectasia-like disorder associated with a homozygous MRE11 synonymous variant causing nonsense-mediated mRNA decay (NMD) and MRE11A deficiency.

Methods

Clinical assessments, next-generation sequencing, transcript and immunohistochemistry analyses were performed.

Results

The patients presented with poor balance, developmental delay during the first year of age, and suffered from intellectual disability from early childhood. They showed oculomotor apraxia, slurred and explosive speech, limb and gait ataxia, exaggerated deep tendon reflex, dystonic posture, and mirror movement in their hands. They developed mild cognitive abilities. Brain MRI in the index case revealed cerebellar atroph

SUBMITTER: Sedghi M 

PROVIDER: S-EPMC6283458 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature