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CASZ1 loss-of-function mutation contributes to familial dilated cardiomyopathy

  • Xing-Biao Qiu , Xin-Kai Qu , Ruo-Gu Li , Hua Liu , Ying-Jia Xu , Min Zhang , Hong-Yu Shi , Xu-Min Hou , Xu Liu , Fang Yuan , Yu-Min Sun , Jun Wang , Ri-Tai Huang , Song Xue and Yi-Qing Yang EMAIL logo
Published/Copyright: January 18, 2017
Clinical Chemistry and Laboratory Medicine (CCLM)
From the journal Clinical Chemistry and Laboratory Medicine (CCLM) Volume 55 Issue 9

Abstract

Background:

The zinc finger transcription factor CASZ1 plays a key role in cardiac development and postnatal adaptation, and in mice, deletion of the CASZ1 gene leads to dilated cardiomyopathy (DCM). However, in humans whether genetically defective CASZ1 contributes to DCM remains unclear.

Methods:

The coding exons and splicing junction sites of the CASZ1 gene were sequenced in 138 unrelated patients with idiopathic DCM. The available family members of the index patient harboring an identified CASZ1 mutation and 200 unrelated, ethnically matched healthy individuals used as controls were genotyped for CASZ1. The functional characteristics of the mutant CASZ1 were analyzed in contrast to its wild-type counterpart using a luciferase reporter assay system.

Results:

A novel heterozygous CASZ1 mutation, p.K351X, was identified in an index patient with DCM. Genetic analysis of the mutation carrier’s family showed that the mutation co-segregated with DCM, which was transmitted in an autosomal dominant pattern with complete penetrance. The nonsense mutation, which was absent in 400 referential chromosomes, altered the amino acid that was highly conserved evolutionarily. Biological investigations revealed that the mutant CASZ1 had no transcriptional activity.

Conclusions:

The current study reveals CASZ1 as a new gene responsible for human DCM, which provides novel mechanistic insight and potential therapeutic target for CASZ1-associated DCM, implying potential implications in improved prophylactic and therapeutic strategies for DCM, the most common type of primary myocardial disease.

Keywords: CASZ1; dilated cardiomyopathy; genetics; reporter gene assay; transcription factor
Corresponding author: Dr. Yi-Qing Yang, Department of Cardiology, Shanghai Chest Hospital, Shanghai Jiao Tong University, 241 West Huaihai Road, 200030 Shanghai, P.R. China, Phone: +86-21-62821990, Fax: +86-21-62821105

Acknowledgments

We really thank the study participants for their participation in this investigation.

  1. Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

  2. Research funding: This work was financially supported by grants from the National Natural Science Fund of China (81470372 and 81270161), the Key Program for Basic Research of Shanghai, China (14JC1405500), the Natural Science Fund of Shanghai, China (14ZR1438000 and 15ZR1438100), and the Key Project of Shanghai Chest Hospital, China (2014YZDH10102).

  3. Employment or leadership: None declared.

  4. Honorarium: None declared.

  5. Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.

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Received: 2016-7-10
Accepted: 2016-12-9
Published Online: 2017-1-18
Published in Print: 2017-8-28

©2017 Walter de Gruyter GmbH, Berlin/Boston

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https://doi.org/10.1515/cclm-2016-0612
Keywords for this article
CASZ1; dilated cardiomyopathy; genetics; reporter gene assay; transcription factor

Articles in the same Issue

  1. Frontmatter
  2. Editorial
  3. Mass spectrometry or immunoassay: est modus in rebus
  4. Reviews
  5. The use of liquid chromatography-tandem mass spectrometry for therapeutic drug monitoring of antibiotics in cancer patients
  6. Tackling serum folate test in European countries within the health technology assessment paradigm: request appropriateness, assays and health outcomes
  7. Genetics and Molecular Diagnostics
  8. Genetic diagnosis of α1-antitrypsin deficiency using DNA from buccal swab and serum samples
  9. General Clinical Chemistry and Laboratory Medicine
  10. Serum triglyceride measurements: the commutability of reference materials and the accuracy of results
  11. Variant peptide detection utilizing mass spectrometry: laying the foundations for proteogenomic identification and validation
  12. Evaluation of two fully automated immunoassay based tests for the measurement of 1α,25-dihydroxyvitamin D in human serum and comparison with LC-MS/MS
  13. Parallel diurnal fluctuation of testosterone, androstenedione, dehydroepiandrosterone and 17OHprogesterone as assessed in serum and saliva: validation of a novel liquid chromatography-tandem mass spectrometry method for salivary steroid profiling
  14. Determination of oxycodone and its major metabolites noroxycodone and oxymorphone by ultra-high-performance liquid chromatography tandem mass spectrometry in plasma and urine: application to real cases
  15. Identification and quantitation of phosphatidylethanols in oral fluid by liquid chromatography-tandem mass spectrometry
  16. Relationship between plasma and salivary melatonin and cortisol investigated by LC-MS/MS
  17. Paramagnetic micro-particles as a tool for rapid quantification of apixaban, dabigatran, edoxaban and rivaroxaban in human plasma by UHPLC-MS/MS
  18. Measurements of serum non-ceruloplasmin copper by a direct fluorescent method specific to Cu(II)
  19. The serum concentrations of leptin and MCP-1 independently predict low back pain duration
  20. Immunoassay screening in urine for synthetic cannabinoids – an evaluation of the diagnostic efficiency
  21. Cancer Diagnostics
  22. Study of kallikrein-related peptidase 6 (KLK6) and its complex with α1-antitrypsin in biological fluids
  23. Cardiovascular Diseases
  24. A candidate liquid chromatography mass spectrometry reference method for the quantification of the cardiac marker 1-32 B-type natriuretic peptide
  25. The natriuretic peptide MR-proANP predicts all-cause mortality and adverse outcome in community patients: a 10-year follow-up study
  26. CASZ1 loss-of-function mutation contributes to familial dilated cardiomyopathy
  27. Diabetes
  28. Evaluating new HbA1c methods for adoption by the IFCC and NGSP reference networks using international quality targets
  29. Infectious Diseases
  30. Analytical and diagnostic performance of two automated fecal calprotectin immunoassays for detection of inflammatory bowel disease
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  38. Usefulness of maternal red cell antibodies to predict hemolytic disease of the fetus and newborn and significant neonatal hyperbilirubinemia: a retrospective study
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