Open AccessA rare case of ataxia-telangiectasia-like disorder with MRE11 mutation
Author(s) -
Rohan Mahale,
Shilpa Reddy,
Pavagada Mathuranth,
Pooja Mailankody,
Hansashree Padmanabha,
Chandra Sadnavalli Retnaswami
Publication year - 2020
Publication title -
journal of pediatric neurosciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.247
H-Index - 18
eISSN - 1998-3948
pISSN - 1817-1745
DOI - 10.4103/jpn.jpn_152_19
Subject(s) - ataxia telangiectasia , cerebellar ataxia , ataxia , medicine , mutation , atrophy , nijmegen breakage syndrome , exome sequencing , genetics , gene , dna damage , pathology , dna , biology , psychiatry
The prototypical disorder for the early-onset cerebellar ataxia with cerebellar atrophy is ataxia telangiectasia (AT). AT belongs to "DNA-repair defects" or "DNA-repair deficiency" disorders. The ATM (Ataxia-telangiectasia mutated kinase) gene mutated in AT is central to deoxyribonucleic acid (DNA) damage response (DDR) signaling. Other genes implicated in DDR signaling are MRE11A ( Meiotic recombination 11 ). Mutation of this gene results in ataxia-telangiectasia-like disorder (ATLD). We report a boy who presented with mild cerebellar ataxia and dystonia with cerebellar atrophy on brain imaging. Clinical exome sequencing showed compound heterozygous variants in MRE11 gene. He was diagnosed as ATLD, which has not been reported in Indian subcontinent so far.