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September 1, 2019Circulation Genomic and Precision MedicineOpen Access

Biallelic Variants in ASNA1 , Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy

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Why the study?

Pediatric cardiomyopathies have high morbidity and mortality, but the underlying genetic cause remains elusive in a substantial proportion of cases.

Population

A pair of siblings with rapidly progressive dilated cardiomyopathy and death in early infancy

Design

Exome sequencing with patient tissue protein expression, in vitro assay, and zebrafish functional studies

Authors

JVJudith M.A. VerhagenMBMyrthe van den BornHLHerma C. van der Linde

Discussion

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Overview

Identifies ASNA1 variants as cause of infantile familial DCM; leaves open expanded testing panels pending replication in larger cohorts.

Key Points

Key points are not available for this paper at this time.

Cite This Study

Verhagen et al. (2019) studied this question.

synapsesocial.com/papers/6a82c2640715daaa1f23bbf1https://doi.org/10.1161/circgen.119.002507
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1ASNA1 is essential for cardiac development and function by regulating tail-anchored protein stability and vesicular transport in cardiomyocytes2025
  2. 2ATP5F1A deficiency causes developmental delay and motor dysfunction in humans and zebrafish2025 · 4 citations
  3. 3A missense variant in Exon 9 of the ASNS gene causes splicing abnormality in an Infant with asparagine synthetase deficiency2026 · 1 citations
  4. 4A genetically engineered vertebrate animal model of NAA15-related heart disease uncovers myocardial growth, contractility, and mitochondrial defects2025
  5. 5Biallelic potential disease-causing missense variants in TAF1A in two siblings with infantile restrictive cardiomyopathy2024