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Study of pathogenic genes in a pedigree with familial dilated cardiomyopathy

BACKGROUND: Dilated cardiomyopathy (DCM) is a genetically heterogeneous cardiac disorder characterized by left ventricular dilation and contractile dysfunction. The substantial genetic heterogeneity evident in patients with DCM contributes to variable disease severity and complicates overall prognos...

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Autores principales: Zhang, Xin-Ru, Ren, Hang, Yao, Fang, Liu, Yang, Song, Chun-Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10130982/
https://www.ncbi.nlm.nih.gov/pubmed/37123301
http://dx.doi.org/10.12998/wjcc.v11.i11.2412
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author Zhang, Xin-Ru
Ren, Hang
Yao, Fang
Liu, Yang
Song, Chun-Li
author_facet Zhang, Xin-Ru
Ren, Hang
Yao, Fang
Liu, Yang
Song, Chun-Li
author_sort Zhang, Xin-Ru
collection PubMed
description BACKGROUND: Dilated cardiomyopathy (DCM) is a genetically heterogeneous cardiac disorder characterized by left ventricular dilation and contractile dysfunction. The substantial genetic heterogeneity evident in patients with DCM contributes to variable disease severity and complicates overall prognosis, which can be very poor. AIM: To identify pathogenic genes in DCM through pedigree analysis. METHODS: Our research team identified a patient with DCM in the clinic. Through investigation, we found that the family of this patient has a typical DCM pedigree. High-throughput sequencing technology, next-generation sequencing, was used to sequence the whole exomes of seven samples in the pedigree. RESULTS: A novel and potentially pathogenic gene mutation-ANK2p.F3067L-was discovered. The mutation was completely consistent with the clinical information for this DCM pedigree. Sanger sequencing was used to further verify the locus of the mutation in pedigree samples. These results were consistent with those of high-throughput sequencing. CONCLUSIONS: ANK2p.F3067L is considered a novel and potentially pathogenic gene mutation in DCM.
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spelling pubmed-101309822023-04-27 Study of pathogenic genes in a pedigree with familial dilated cardiomyopathy Zhang, Xin-Ru Ren, Hang Yao, Fang Liu, Yang Song, Chun-Li World J Clin Cases Retrospective Study BACKGROUND: Dilated cardiomyopathy (DCM) is a genetically heterogeneous cardiac disorder characterized by left ventricular dilation and contractile dysfunction. The substantial genetic heterogeneity evident in patients with DCM contributes to variable disease severity and complicates overall prognosis, which can be very poor. AIM: To identify pathogenic genes in DCM through pedigree analysis. METHODS: Our research team identified a patient with DCM in the clinic. Through investigation, we found that the family of this patient has a typical DCM pedigree. High-throughput sequencing technology, next-generation sequencing, was used to sequence the whole exomes of seven samples in the pedigree. RESULTS: A novel and potentially pathogenic gene mutation-ANK2p.F3067L-was discovered. The mutation was completely consistent with the clinical information for this DCM pedigree. Sanger sequencing was used to further verify the locus of the mutation in pedigree samples. These results were consistent with those of high-throughput sequencing. CONCLUSIONS: ANK2p.F3067L is considered a novel and potentially pathogenic gene mutation in DCM. Baishideng Publishing Group Inc 2023-04-16 2023-04-16 /pmc/articles/PMC10130982/ /pubmed/37123301 http://dx.doi.org/10.12998/wjcc.v11.i11.2412 Text en ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved. https://creativecommons.org/licenses/by-nc/4.0/This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial.
spellingShingle Retrospective Study
Zhang, Xin-Ru
Ren, Hang
Yao, Fang
Liu, Yang
Song, Chun-Li
Study of pathogenic genes in a pedigree with familial dilated cardiomyopathy
title Study of pathogenic genes in a pedigree with familial dilated cardiomyopathy
title_full Study of pathogenic genes in a pedigree with familial dilated cardiomyopathy
title_fullStr Study of pathogenic genes in a pedigree with familial dilated cardiomyopathy
title_full_unstemmed Study of pathogenic genes in a pedigree with familial dilated cardiomyopathy
title_short Study of pathogenic genes in a pedigree with familial dilated cardiomyopathy
title_sort study of pathogenic genes in a pedigree with familial dilated cardiomyopathy
topic Retrospective Study
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10130982/
https://www.ncbi.nlm.nih.gov/pubmed/37123301
http://dx.doi.org/10.12998/wjcc.v11.i11.2412
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