학술논문
Whole-exome sequencing reveals a likely pathogenic LMNA variant causing hypertrophic cardiomyopathy.
Document Type
Article
Author
Source
Subject
*PROTEINS
*SEQUENCE analysis
*GENETICS
*CARDIAC hypertrophy
*FAMILIES
*MAGNETIC resonance imaging
*RISK assessment
*GENOMES
*SYMPTOMS
*POLYMERASE chain reaction
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Language
ISSN
0007-5027
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. [ABSTRACT FROM AUTHOR]