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  1. New genetic cause of severe heart disease

New genetic cause of severe heart disease

October 22, 2019

Biallelic variants in ASNA1, encoding a cytosolic targeting factor of tail-anchored proteins, cause rapidly progressive pediatric cardiomyopathy

Heart disease is a clinically and genetically diverse condition. In two siblings with a fatal outcome, compound heterozygosity for variants in the ASNA1 gene was identified as the only plausible cause upon exome sequencing. Functional data that were contributed by academic collaborators further supported causality of the variants. The new gene-disease association was published in Circulation – Genomic Precision Medicine.