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Article

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

1 Dec 2018

Abstract excerpt

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...

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PMID: 30584599
DOI: 10.1212/nxg.0000000000000295

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