ArticleAmerican journal of medical genetics. Part A2011
Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate.
Article in American journal of medical genetics. Part A, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 2 of them syntheses that pooled it.
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Who cites it
30 citing papers in PubMed, 2 syntheses or guidelines pooled it, 83 citations in OpenAlex.
- Genetic Landscape of Robin Sequence: A Systematic Review.Clinical genetics · 2026Pooled it
- Tooth agenesis and orofacial clefting: genetic brothers in arms?Human genetics · 2016Pooled it
- Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma.European journal of human genetics : EJHG · 2019Trial
- Genotypic and Phenotypic Characterization of Seven Individuals With Predicted Bone Morphogenetic Protein 2 (BMP2) Haploinsufficiency.Clinical genetics · 2025Article
- Mutations in the bone morphogenetic protein signaling pathway sensitize zebrafish and humans to ethanol-induced jaw malformations.Disease models & mechanisms · 2025Article
- Sirt6 loss activates Got1 and facilitates cleft palate through abnormal activating glycolysis.Cell death & disease · 2025Article
- 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
- Transforming growth factor beta signaling and craniofacial development: modeling human diseases in zebrafish.Frontiers in cell and developmental biology · 2024Review
- BMP signaling during craniofacial development: new insights into pathological mechanisms leading to craniofacial anomalies.Frontiers in physiology · 2023Review
- The association of polymorphisms inSaudi journal of biological sciences · 2022Article
- A 6.3 Mb maternally derived microduplication of 20p13p12.2 in a fetus with Brachydactyly type D and related literature review.Molecular cytogenetics · 2022Article
- Genetic Mutations Associated with Pierre Robin Syndrome/Sequence: A Systematic Review.Molecular syndromology · 2021Review
- Genetics and signaling mechanisms of orofacial clefts.Birth defects research · 2020Review
- Conditional deletion of Bmp2 in cranial neural crest cells recapitulates Pierre Robin sequence in mice.Cell and tissue research · 2019Article
- [Detection and functional analysis of BMP2 gene mutation in patients with tooth agenesis].Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences · 2019Article
- Extracellular Matrix Composition and Remodeling: Current Perspectives on Secondary Palate Formation, Cleft Lip/Palate, and Palatal Reconstruction.Frontiers in cell and developmental biology · 2019Review
- 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
- Copy Number Changes Identified Using Whole Exome Sequencing in Nonsyndromic Cleft Lip and Palate in a Honduran Population.Birth defects research · 2017Article
- BMPR1B mutation causes Pierre Robin sequence.Oncotarget · 2017Article
- Determinants of orofacial clefting I: Effects of 5-Aza-2'-deoxycytidine on cellular processes and gene expression during development of the first branchial arch.Reproductive toxicology (Elmsford, N.Y.) · 2017Article
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
Abstract
Orofacial clefts of the lip and/or palate comprise one of the most common craniofacial birth defects in humans. Though a majority of cleft lip and/or cleft palate (CL/P) occurs as isolated congenital anomalies, there exist a large number of Mendelian disorders in which orofacial clefting is part of the clinical phenotype. Here we report on two individuals and one multi-generational family with microdeletions at 20p12.3 that include the bone morphogenetic protein 2 (BMP2) gene. In two propositi the deletion was almost identical at ∼600 kb in size, and BMP2 was the only gene deleted; the third case had a ∼5.5-Mb deletion (20p13p12.2) that encompassed at least 20 genes including BMP2. Clinical features were significant for cleft palate and facial dysmorphism in all three patients, including Pierre-Robin sequence in two. Microdeletion 20p13p12 involving BMP2 is rare and has been implicated in Wolff-Parkinson-White (WPW) syndrome with neurocognitive deficits and with Alagille syndrome when the deletion includes the neighboring JAG1 gene in addition to BMP2. Despite a significant role for the BMPs in orofacial development, heterozygous loss of BMP2 has not been previously reported in patients with syndromic clefting defects. Because BMP2 was the sole deleted gene in Patients 1 and 2 and one of the genes deleted in Patient 3, all of whom had clinical features in common, we suggest that haploinsufficiency for BMP2 is a crucial event that predisposes to cleft palate and additional anomalies. Lack of significant phenotypic components in family members of Patient 1 suggests variable expressivity for the phenotype.
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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.