Characterisation of Non-Pathogenic Premutation-Range Myotonic Dystrophy Type 2 Alleles.

ABSTRACT: Myotonic dystrophy type 2 (DM2) is caused by expansion of a (CCTG)_n repeat in the cellular retroviral nucleic acid-binding protein (CNBP) gene. The sequence of the repeat is most commonly interrupted and is stably inherited in the general population. Although expanded alleles, premutation range and, in rare cases, also non-disease associated alleles containing uninterrupted CCTG tracts have been described, the threshold between these categories is poorly characterised. Here, we describe four families with members reporting neuromuscular complaints, in whom we identified altogether nine ambiguous CNBP alleles containing uninterrupted CCTG repeats in the range between 32 and 42 repeats. While these grey-zone alleles are most likely not pathogenic themselves, since other pat

SUBMITTER: Radvanszky J 

PROVIDER: S-EPMC8432210 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature