Whole-exome sequencing reveals a likely pathogenic LMNA variant causing hypertrophic cardiomyopathy.

Laboratory medicine Pub Date : 2024-01-06 DOI:10.1093/labmed/lmad038

Mohammad Mahdavi, Neda Mohsen-Pour, Majid Maleki, Serwa Ghasemi, Avisa Tabib, Golnaz Houshmand, Niloofar Naderi, Tannaz Masoumi, Hamidreza Pouraliakbar, Samira Kalayinia

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Abstract

Objective: We studied the clinical and molecular features of a family with hypertrophic cardiomyopathy (HCM).

Background: A very heterogeneous disease affecting the heart muscle, HCM is mostly caused by variants in the proteins of sarcomeres. The detection of HCM pathogenic variants can affect the handling of patients and their families.

Methods: Whole-exome sequencing (WES) was performed to assess the genetic cause(s) of HCM in a consanguineous Iranian family.

Results: Missense likely pathogenic variant c.1279C>T (p.Arg427Cys) within exon 7 of the LMNA gene (NM_170707) was found. The segregations were confirmed by polymerase chain reaction-based Sanger sequencing.

Conclusions: Variant c.1279C>T (p.Arg427Cys) in the LMNA gene seemed to have been the cause of HCM in the family. A few LMNA gene variants related to HCM phenotypes have been recognized so far. Identifying HCM genetic basis confers significant opportunities to understand how the disease can develop and, by extension, how this progression can be arrested. Our study supports WES effectiveness for first-tier variant screening of HCM in a clinical setting.

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全外显子组测序发现了一种可能导致肥厚型心肌病的致病性 LMNA 变异。

目的：我们研究了一个肥厚型心肌病（HCM）家族的临床和分子特征：我们研究了一个肥厚型心肌病（HCM）家族的临床和分子特征：背景：肥厚性心肌病是一种影响心肌的异质性疾病，主要由肌节蛋白变异引起。HCM致病变异的检测会影响患者及其家庭的治疗：方法：对一个伊朗近亲家庭进行了全外显子组测序（WES），以评估 HCM 的遗传原因：结果：在 LMNA 基因 (NM_170707) 第 7 外显子中发现了可能致病的错义变异 c.1279C>T (p.Arg427Cys)。基于聚合酶链式反应的桑格测序证实了这一变异：结论：LMNA 基因变异 c.1279C>T (p.Arg427Cys) 似乎是该家族 HCM 的病因。迄今为止，已发现一些与 HCM 表型相关的 LMNA 基因变异。确定 HCM 的遗传基础为了解该疾病如何发展以及如何阻止其发展提供了重要机会。我们的研究支持 WES 在临床环境中对 HCM 进行一级变异筛选的有效性。

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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Laboratory medicine

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