ArticleInternational journal of molecular sciences2022
Identification of a Novel de Novo Variant in the CASZ1 Causing a Rare Type of Dilated Cardiomyopathy.
Article in International journal of molecular sciences, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 10 citations in OpenAlex.
- Postmortem Diagnosis of Dilated Cardiomyopathy: A Systematic Review Revisiting Fundamentals.Diagnostics (Basel, Switzerland) · 2025Review
- Deep learning the dynamic regulatory sequence code of cardiac organoid differentiation.bioRxiv : the preprint server for biology · 2025Article
- Whole exome sequence reveals genetic profiles of primary cardiomyopathy and genotype-phenotype association in Chinese population.BMC genomics · 2025Article
- Sarcomere gene variants did not improve cardiac function in pediatric patients with dilated cardiomyopathy from Japanese cohorts.Scientific reports · 2024Article
- CASZ1 Is Essential for Skin Epidermal Terminal Differentiation.The Journal of investigative dermatology · 2024Article
- Role of the CASZ1 transcription factor in tissue development and disease.European journal of medical research · 2023Review
- Review
- Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.Frontiers in cardiovascular medicine · 2023Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A new de novo frameshift variant has been identified in the CASZ1 gene leading to severe dilated cardiomyopathy.
methodsThe 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.
resultsWe 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.
conclusionsIn this study, we described a new case with a frameshift mutation in CASZ1 causing a severe phenotype of dilated cardiomyopathy.
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