Co-occurrence of CAPN3 homozygous mutation and CCTG expansion in the CNBP gene in a patient with muscular dystrophy.

Postepy psychiatrii neurologii Pub Date : 2024-06-01 Epub Date: 2024-07-24 DOI:10.5114/ppn.2024.141382

Wiktoria Radziwonik-Frączyk, Ewelina Elert-Dobkowska, Jolanta Kubalska, Iwona Stępniak, Marta Lipowska, Anna Potulska-Chromik, Anna Sułek

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Abstract

Purpose: Muscular dystrophy is a group of heterogeneous diseases causing progressive muscle weakness and atrophy. Many types have been defined, including Duchenne/Becker, myotonic, limb-girdle, congenital, and facioscapulohumeral muscular dystrophies. This study aims to present the first patient with both a homozygous CAPN3 mutation and a CCTG expansion in the CNBP gene, which suggests the co-occurrence of two diseases in a single patient.

Case description: Homozygous pathogenic variant c.550delA (p.Thr184ArgfsTer36) in the CAPN3 gene, as well as a heterozygous expansion of a CCTG repeat of the CNBP gene, were identified in a single patient. Segregation analysis showed both maternal and paternal heterozygous carriers for CAPN3 mutation, and a maternally inherited CNBP expansion.

Comment: In general, the co-occurrence of two diseases in a single patient is considered as uncommon, although possible, and therefore it should be taken into consideration in the populations with a relatively high prevalence of myotonic dystrophy type 2.

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一名肌肉萎缩症患者的 CNBP 基因中同时存在 CAPN3 同源突变和 CCTG 扩增。

目的：肌肉萎缩症是一组导致进行性肌无力和萎缩的异质性疾病。目前已定义了多种类型，包括杜兴/贝克型、肌强直型、肢束型、先天型和面盖肱肌营养不良型。本研究旨在介绍第一例同时患有同基因CAPN3突变和CNBP基因CCTG扩增的患者，这表明在一名患者中同时存在两种疾病：在一名患者身上发现了 CAPN3 基因的同源致病变异 c.550delA（p.Thr184ArgfsTer36），以及 CNBP 基因 CCTG 重复的异源扩增。遗传分析表明，母系和父系均为 CAPN3 基因突变的杂合携带者，而 CNBP 基因扩增则为母系遗传：评论：一般来说，在一名患者身上同时出现两种疾病的情况并不常见，但这是有可能发生的，因此在肌营养不良 2 型发病率较高的人群中应加以考虑。

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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Postepy psychiatrii neurologii

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