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Article 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 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) 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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10701496 | PMC |
| http://dx.doi.org/10.1515/almed-2022-0079 | DOI Listing |
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