ArticleJournal of medical genetics2009
20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits.
Article in Journal of medical genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
What it found
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Who cites it
24 citing papers in PubMed, 109 citations in OpenAlex.
- The cardiac conduction system: development, function and therapeutic targets.Nature reviews. Cardiology · 2026Review
- A Retrospective Study of Clinical and Genetic Features in a Long-Term Cohort of Mexican Children with Alagille Syndrome.International journal of molecular sciences · 2025Article
- Genotypic and Phenotypic Characterization of Seven Individuals With Predicted Bone Morphogenetic Protein 2 (BMP2) Haploinsufficiency.Clinical genetics · 2025Article
- A New Mechanism of Supraventricular Tachycardia: Gene Mutation.Current cardiology reviews · 2025Review
- A rare case of de novo 20p12.3 microdeletion syndrome in a nine-year-old female: case report and literature review.Frontiers in genetics · 2025Article
- How Cardiac Embryology Translates into Clinical Arrhythmias.Journal of cardiovascular development and disease · 2021Review
- Genetics and signaling mechanisms of orofacial clefts.Birth defects research · 2020Review
- Transcriptional regulation of the cardiac conduction system.Nature reviews. Cardiology · 2018Review
- Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.American journal of human genetics · 2017Article
- Development and Function of the Cardiac Conduction System in Health and Disease.Journal of cardiovascular development and disease · 2017Article
- 20p12.3 deletion is rare cause of syndromic cleft palate: case report and review of literature.BMC research notes · 2016Review
- Article
- Cryptic genomic rearrangements in three patients with 46,XY disorders of sex development.PloS one · 2013Article
- Cleft palate in a multigenerational family with a microdeletion of 20p12.3 involving BMP2.American journal of medical genetics. Part A · 2012Article
- The genetics of attention deficit/hyperactivity disorder in adults, a review.Molecular psychiatry · 2012Review
- Electrophysiological patterning of the heart.Pediatric cardiology · 2012Review
- Gene regulatory networks in cardiac conduction system development.Circulation research · 2012Review
- Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate.American journal of medical genetics. Part A · 2011Article
- BMP signaling in congenital heart disease: new developments and future directions.Birth defects research. Part A, Clinical and molecular teratology · 2011Review
- The cardiac conduction system.Circulation · 2011Review
Corrections and comments
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Authors and funding
31 authors at 5 institutions in 2 countries.
Funding
Abstract
backgroundWolff-Parkinson-White syndrome (WPW) is a bypass re-entrant tachycardia that results from an abnormal connection between the atria and ventricles. Mutations in PRKAG2 have been described in patients with familial WPW syndrome and hypertrophic cardiomyopathy. Based on the role of bone morphogenetic protein (BMP) signalling in the development of annulus fibrosus in mice, it has been proposed that BMP signalling through the type 1a receptor and other downstream components may play a role in pre-excitation. METHODS AND
resultsUsing the array comparative genomic hybridisation (CGH), we identified five individuals with non-recurrent deletions of 20p12.3. Four of these individuals had WPW syndrome with variable dysmorphisms and neurocognitive delay. With the exception of one maternally inherited deletion, all occurred de novo, and the smallest of these harboured a single gene, BMP2. In two individuals with additional features of Alagille syndrome, deletion of both JAG1 and BMP2 were identified. Deletion of this region has not been described as a copy number variant in the Database of Genomic Variants and has not been identified in 13 321 individuals from other cohort examined by array CGH in our laboratory.
conclusionsOur findings demonstrate a novel genomic disorder characterised by deletion of BMP2 with variable cognitive deficits and dysmorphic features and show that individuals bearing microdeletions in 20p12.3 often present with WPW syndrome.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.