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Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant
Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.
Department of Neurology, Shahid Beheshti University of Medical Science, Tehran, Iran.
Department of Pathology, University of Gothenburg, Sahlgrenska University Hospital, Sweden.
Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.
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2018 (English)In: Neurology: Genetics, ISSN 2376-7839, Vol. 4, no 6, article id e295Article in journal (Refereed) Published
Abstract [en]

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 atrophy. Next-generation sequencing revealed a homozygous synonymous variant in MRE11 (c.657C>T, p.Asn219=) that we show affects splicing. A complete absence of MRE11 transcripts in the index case suggested NMD and immunohistochemistry confirmed the absence of a stable protein. Conclusions Despite the critical role of MRE11A in double-strand break repair and its contribution to the Mre11/Rad50/Nbs1 complex, the absence of MRE11A is compatible with life. 

Place, publisher, year, edition, pages
Lippincott Williams & Wilkins, 2018. Vol. 4, no 6, article id e295
National Category
Clinical Laboratory Medicine
Research subject
Bioinformatics; Translational Medicine TRIM
Identifiers
URN: urn:nbn:se:his:diva-16631DOI: 10.1212/NXG.0000000000000295ISI: 000455099800019PubMedID: 30584599Scopus ID: 2-s2.0-85060870481OAI: oai:DiVA.org:his-16631DiVA, id: diva2:1289135
Note

From the Medical Genetics Laboratory (M. Sedghi), Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran; Department of Neurology (M. Salari), Shahid Beheshti University of Medical Science, Tehran, Iran; Department of Pathology (A.-R.M.), University of Gothenburg, Sahlgrenska University Hospital, Sweden; Kariminejad-Najmabadi Pathology & Genetics Center (A.K.), Tehran, Iran; Department of Diagnostic Genomics (M.D.), Pathwest, QEII Medical Centre; Centre for Medical Research (H.G., N.L., H.T.), The University of Western Australia and the Harry Perkins Institute for Medical Research, Nedlands, Australia; School of Bioscience (B.O.), University of Skovde; and Division Biomedicine (H.T.), School of Health and Education, University of Skovde, Sweden.

Available from: 2019-02-15 Created: 2019-02-15 Last updated: 2019-05-09

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Olsson, BjörnTajsharghi, Homa

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CiteExportLink to record
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