AI Article Synopsis
- Myotonic dystrophy type 1 (DM1) is a serious genetic disorder caused by a repeated sequence of DNA (CTG) expanding in a specific gene, leading to various symptoms that worsen over time.
- This case study highlights a family with multiple generations experiencing this genetic expansion, while also noting an instance of a potential false alarm regarding a decrease in the repeat size due to testing limitations.
- The phenomenon of genetic anticipation is discussed, where later generations tend to have larger expansions and more severe symptoms, although rare occurrences of repeat size contraction can happen, especially when inherited from fathers.
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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Source |
|---|---|
| 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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