No increase in the CTG repeat size during transmission from parent with expanded allele: false suspicion of contraction phenomenon

Abstract

Abstract Objectives Myotonic dystrophy type 1 (DM1), also known as Steinert’s disease, is a chronic, progressive and disabling multisystemic disorder with a broad spectrum of severity that arises from an autosomal-dominant expansion of the Cytosine-Thymine-Guanine (CTG) triplet repeat in the 3′ untranslated region of the DMPK gene (19q13.3). Case presentation In this study, we report the case of a family with several intergenerational expansions of the CTG repeat, with an additional case of a false suspicion of contraction phenomenon due to TP-PCR limitations. Conclusions The meiotic instability of the (CTG)n repeats leads to genetic anticipation where increased size of DM1 mutation and a more severe phenotype have been reported in affected individuals across generations. Even if extremely rare, a decrease in the CTG repeat size during transmission from parents to child can also occur, most frequently during paternal transmissions.