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

Anna Orlova; Daria Guseva; Oxana Ryzhkova

doi:10.3390/ijms232012506

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

Int J Mol Sci. 2022 Oct 20;23(20):12506. doi: 10.3390/ijms232012506.

Authors

Anna Orlova¹, Daria Guseva², Oxana Ryzhkova^{1

3}

Affiliations

¹ SRC «Genome», Federal State Budgetary Scientific Institution Research Centre of Medical Genetics, 115522 Moscow, Russia.
² Counselling Unit, Federal State Budgetary Scientific Institution Research Centre of Medical Genetics, 115522 Moscow, Russia.
³ Laboratory of Molecular Genetic Diagnosis 3, Federal State Budgetary Scientific Institution Research Centre of Medical Genetics, 115522 Moscow, Russia.

Abstract

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.

Keywords: CASZ1 mutation; dilated cardiomyopathy; first de novo mutation.

Publication types

Case Reports

MeSH terms

Cardiomyopathy, Dilated* / genetics
DNA-Binding Proteins / genetics
Female
Frameshift Mutation
Humans
Mutation
Pedigree
Phenotype
Transcription Factors / genetics

Substances

CASZ1 protein, human
DNA-Binding Proteins
Transcription Factors

Grants and funding

This research received no external funding.