ArticleMolecular genetics & genomic medicine2019
A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed, 26 citations in OpenAlex.
- Dilated and Noncompaction Cardiomyopathy in a Pediatric Patient With Maternal CASZ1 Variant.JACC. Case reports · 2026Article
- 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
- Clinical characteristics of central nervous system candidiasis due to Candida albicans in children: a single-center experience.BMC infectious diseases · 2022Article
- Identification of a Novel de Novo Variant in the CASZ1 Causing a Rare Type of Dilated Cardiomyopathy.International journal of molecular sciences · 2022Article
- Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery.PLoS genetics · 2022Article
- Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.Orphanet journal of rare diseases · 2021Article
- CASZ1b is a novel transcriptional corepressor of mineralocorticoid receptor.Hypertension research : official journal of the Japanese Society of Hypertension · 2021Article
- Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China.Frontiers in genetics · 2021Article
- Cardiomyopathies in China: A 2018-2019 state-of-the-art review.Chronic diseases and translational medicine · 2020Review
- Whole-exome sequencing reveals twoPediatric investigation · 2020Article
- Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies.International journal of molecular sciences · 2019Review
- A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy.Molecular genetics & genomic medicine · 2019Article
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Authors and funding
9 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundDilated cardiomyopathy (DCM) is the most common cardiomyopathy with a common presentation of heart failure. It has been reported that CASZ1 loss-of-function mutation contributes to familial DCM and congenital ventricular septal defect (VSD). To date, only two pathogenic variants in CASZ1 have been previously reported worldwide.
methodsTo identify the causative variant in an 11-month-old Chinese boy with DCM and left ventricular noncompaction cardiomyopathy (LVNC), trio-whole-exome sequencing was performed followed by mutational analysis and Sanger sequencing.
resultsAn unreported de novo heterozygous frameshift variant (c.2443_2459delGTGGGCACCCCCAGCCT, p.Val815Profs*14) in CASZ1 was idenitified in the proband. The frameshift mutation in CASZ1 not only led to DCM but also presented an LVNC phenotype.
conclusionWe have identified a novel CASZ1 variant in a patient with combined DCM and LVNC for the first time, thus broadening the phenotypic spectrum of CASZ1 variants. Furthermore, this study emphasized the usefulness of whole-exome sequencing for genetic diagnosis of cardiomyopathy.
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