ArticleGenetics and molecular biology2022
A novel PRRX1 loss-of-function variation contributing to familial atrial fibrillation and congenital patent ductus arteriosus.
Article in Genetics and molecular biology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 13 citations in OpenAlex.
- Identification and Functional Investigation ofDiagnostics (Basel, Switzerland) · 2024Article
- Pathophysiology and clinical relevance of atrial myopathy.Basic research in cardiology · 2024Review
- SomaticExperimental and therapeutic medicine · 2024Article
- Discovery and functional investigation ofAmerican journal of translational research · 2024Article
- Discovery ofAmerican journal of translational research · 2024Article
- Discovery ofBiology · 2023Article
- Discovery ofBiology · 2023Article
- Heart-brain axis: Association of congenital heart abnormality and brain diseases.Frontiers in cardiovascular medicine · 2023Review
- Identification ofDiagnostics (Basel, Switzerland) · 2022Article
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Atrial fibrillation (AF) represents the most common type of sustained cardiac arrhythmia in humans and confers a significantly increased risk for thromboembolic stroke, congestive heart failure and premature death. Aggregating evidence emphasizes the predominant genetic defects underpinning AF and an increasing number of deleterious variations in more than 50 genes have been involved in the pathogenesis of AF. Nevertheless, the genetic basis underlying AF remains incompletely understood. In the current research, by whole-exome sequencing and Sanger sequencing analysis in a family with autosomal-dominant AF and congenital patent ductus arteriosus (PDA), a novel heterozygous variation in the PRRX1 gene encoding a homeobox transcription factor critical for cardiovascular development, NM_022716.4:c.373G>T;p.(Glu125*), was identified to be in co-segregation with AF and PDA in the whole family. The truncating variation was not detected in 306 unrelated healthy individuals employed as controls. Quantitative biological measurements with a reporter gene analysis system revealed that the Glu125*-mutant PRRX1 protein failed to transactivate its downstream target genes SHOX2 and ISL1, two genes that have been causally linked to AF. Conclusively, the present study firstly links PRRX1 loss-of-function variation to AF and PDA, suggesting that AF and PDA share a common abnormal developmental basis in a proportion of cases.
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