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Mutations in Hnrnpa1 cause congenital heart defects

24 Jan 2018

Abstract excerpt

Incomplete penetrance of congenital heart defects (CHDs) was observed in a mouse model. We hypothesized that the contribution of a major genetic locus modulates the manifestation of the CHDs. After genome-wide linkage mapping, fine mapping, and high-throughput targeted sequencing, a recessive frameshift mutation of the heterogeneous nuclear ribonucleoprotein A1 (Hnrnpa1) gene was confirmed (Hnrnpa1ct). Hnrnpa1...

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PMID: 29367466
DOI: 10.1172/jci.insight.98555

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