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

IF 1.1 Q4 MEDICAL LABORATORY TECHNOLOGY Advances in laboratory medicine Pub Date : 2023-03-06 eCollection Date: 2023-06-01 DOI:10.1515/almed-2022-0079

Nuria Goñi Ros, Paula Sienes Bailo, Ricardo González Tarancón, Loreto Martorell Sampol, Silvia Izquierdo Álvarez

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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.

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等位基因扩增的父母在传播过程中CTG重复大小没有增加：对收缩现象的错误怀疑

肌强直性营养不良1型(DM1)，也被称为Steinert病，是一种慢性，进行性和致残性多系统疾病，具有广泛的严重程度，由DMPK基因3 '非翻译区(19q13.3)的细胞嘧啶-胸腺嘧啶-鸟嘌呤(CTG)三重重复常染色体显性扩增引起。在本研究中，我们报告了一个家庭的病例，有几个CTG重复的代际扩张，另外一个病例由于TP-PCR的限制而错误地怀疑收缩现象。(CTG)n重复序列的减数分裂不稳定性导致遗传预期，在跨代的受影响个体中，DM1突变大小增加和更严重的表型已被报道。即使极其罕见，在父母传播给孩子的过程中，CTG重复大小的减少也可能发生，最常见的是在父亲传播期间。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Advances in laboratory medicine

CiteScore

1.10

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0.00%

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