A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathy.
Mol Genet Genomic Med
; 7(8): e828, 2019 08.
Article
em En
| MEDLINE
| ID: mdl-31268246
ABSTRACT
BACKGROUND:
Dilated 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.METHODS:
To 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.RESULTS:
An 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.CONCLUSION:
We 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.Palavras-chave
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Fatores de Transcrição
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Fibrilação Ventricular
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Cardiomiopatia Dilatada
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Proteínas de Ligação a DNA
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Miocárdio Ventricular não Compactado Isolado
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Prognostic_studies
Limite:
Humans
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Infant
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Male
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article