Identification of a Novel de Novo Variant in the CASZ1 Causing a Rare Type of Dilated Cardiomyopathy

A new de novo frameshift variant has been identified in the CASZ1 gene leading to severe dilated cardiomyopathy. Methods: The proband was analyzed with WES NGS, post-mortem, using dried blood spots on filters. The variant was verified with Sanger sequencing for the proband and her parents. Results:...

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Detalles Bibliográficos
Autores principales: Orlova, Anna, Guseva, Daria, Ryzhkova, Oxana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9603937/
https://www.ncbi.nlm.nih.gov/pubmed/36293425
http://dx.doi.org/10.3390/ijms232012506
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author Orlova, Anna
Guseva, Daria
Ryzhkova, Oxana
author_facet Orlova, Anna
Guseva, Daria
Ryzhkova, Oxana
author_sort Orlova, Anna
collection PubMed
description A new de novo frameshift variant has been identified in the CASZ1 gene leading to severe dilated cardiomyopathy. Methods: The proband was analyzed with WES NGS, post-mortem, using dried blood spots on filters. The variant was verified with Sanger sequencing for the proband and her parents. Results: We reported a proband with a new de novo frameshift mutation, c.3781del (p.(Trp1261GlyfsTer29)), in the CASZ1 gene. The clinical presentation was similar to the severe phenotype described in previous studies. Conclusions: In this study, we described a new case with a frameshift mutation in CASZ1 causing a severe phenotype of dilated cardiomyopathy.
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spelling pubmed-96039372022-10-27 Identification of a Novel de Novo Variant in the CASZ1 Causing a Rare Type of Dilated Cardiomyopathy Orlova, Anna Guseva, Daria Ryzhkova, Oxana Int J Mol Sci Case Report A new de novo frameshift variant has been identified in the CASZ1 gene leading to severe dilated cardiomyopathy. Methods: The proband was analyzed with WES NGS, post-mortem, using dried blood spots on filters. The variant was verified with Sanger sequencing for the proband and her parents. Results: We reported a proband with a new de novo frameshift mutation, c.3781del (p.(Trp1261GlyfsTer29)), in the CASZ1 gene. The clinical presentation was similar to the severe phenotype described in previous studies. Conclusions: In this study, we described a new case with a frameshift mutation in CASZ1 causing a severe phenotype of dilated cardiomyopathy. MDPI 2022-10-20 /pmc/articles/PMC9603937/ /pubmed/36293425 http://dx.doi.org/10.3390/ijms232012506 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Orlova, Anna
Guseva, Daria
Ryzhkova, Oxana
Identification of a Novel de Novo Variant in the CASZ1 Causing a Rare Type of Dilated Cardiomyopathy
title Identification of a Novel de Novo Variant in the CASZ1 Causing a Rare Type of Dilated Cardiomyopathy
title_full Identification of a Novel de Novo Variant in the CASZ1 Causing a Rare Type of Dilated Cardiomyopathy
title_fullStr Identification of a Novel de Novo Variant in the CASZ1 Causing a Rare Type of Dilated Cardiomyopathy
title_full_unstemmed Identification of a Novel de Novo Variant in the CASZ1 Causing a Rare Type of Dilated Cardiomyopathy
title_short Identification of a Novel de Novo Variant in the CASZ1 Causing a Rare Type of Dilated Cardiomyopathy
title_sort identification of a novel de novo variant in the casz1 causing a rare type of dilated cardiomyopathy
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9603937/
https://www.ncbi.nlm.nih.gov/pubmed/36293425
http://dx.doi.org/10.3390/ijms232012506
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AT gusevadaria identificationofanoveldenovovariantinthecasz1causingararetypeofdilatedcardiomyopathy
AT ryzhkovaoxana identificationofanoveldenovovariantinthecasz1causingararetypeofdilatedcardiomyopathy

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