ArticleAmerican journal of human genetics2017
Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.
Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.
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Who cites it
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 58 citations in OpenAlex.
- Molecular and Genetic Mechanisms of Spinal Stenosis Formation: Systematic Review.International journal of molecular sciences · 2022Pooled it
- The genetic landscape of hypospadias: clinical insights into inherited and de novo risk factors.Science China. Life sciences · 2026Article
- Detection of differentially expressed genes in bantam chickens providing insights into chicken dwarfism.BMC genomic data · 2025Article
- Congenital disorders caused by aberrations in the biosynthesis of chondroitin/dermatan sulfate.Journal of human genetics · 2025Review
- Genotypic and Phenotypic Characterization of Seven Individuals With Predicted Bone Morphogenetic Protein 2 (BMP2) Haploinsufficiency.Clinical genetics · 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
- Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center.Scientific reports · 2024Article
- Detection of regions of homozygosity in an unusual case of frontonasal dysplasia.Molecular cytogenetics · 2024Article
- Timing and Graded BMP Signalling Determines Fate of Neural Crest and Ectodermal Placode Derivatives from Pluripotent Stem Cells.Biomedicines · 2024Review
- SOX7 deficiency causes ventricular septal defects through its effects on endocardial-to-mesenchymal transition and the expression of Wnt4 and Bmp2.Human molecular genetics · 2023Article
- Conserved Molecular Players Involved in Human Nose Morphogenesis Underlie Evolution of the Exaggerated Snout Phenotype in Cichlids.Genome biology and evolution · 2023Article
- Challenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures.Genes · 2022Article
- A genotype-first analysis in a cohort of Mullerian anomaly.Journal of human genetics · 2022Article
- SOX7 loss-of-function variation as a cause of familial congenital heart disease.American journal of translational research · 2022Article
- Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.PLoS genetics · 2021Article
- A de novo pathogenic BMP2 variant-related phenotype with the novel finding of bicuspid aortic valve.American journal of medical genetics. Part A · 2021Article
- The Association BetweenIndian journal of orthopaedics · 2021Article
- SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.American journal of human genetics · 2021Article
- Galactose treatment of a PGM1 patient presenting with restrictive cardiomyopathy.JIMD reports · 2021Article
- Genome-Wide Detection of Genetic Loci and Candidate Genes for Body Conformation Traits in Duroc × Landrace × Yorkshire Crossbred Pigs.Frontiers in genetics · 2021Article
Corrections and comments
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Authors and funding
35 authors at 11 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Bone morphogenetic protein 2 (BMP2) in chromosomal region 20p12 belongs to a gene superfamily encoding TGF-β-signaling proteins involved in bone and cartilage biology. Monoallelic deletions of 20p12 are variably associated with cleft palate, short stature, and developmental delay. Here, we report a cranioskeletal phenotype due to monoallelic truncating and frameshift BMP2 variants and deletions in 12 individuals from eight unrelated families that share features of short stature, a recognizable craniofacial gestalt, skeletal anomalies, and congenital heart disease. De novo occurrence and autosomal-dominant inheritance of variants, including paternal mosaicism in two affected sisters who inherited a BMP2 splice-altering variant, were observed across all reported families. Additionally, we observed similarity to the human phenotype of short stature and skeletal anomalies in a heterozygous Bmp2-knockout mouse model, suggesting that haploinsufficiency of BMP2 could be the primary phenotypic determinant in individuals with predicted truncating variants and deletions encompassing BMP2. These findings demonstrate the important role of BMP2 in human craniofacial, skeletal, and cardiac development and confirm that individuals heterozygous for BMP2 truncating sequence variants or deletions display a consistent distinct phenotype characterized by short stature and skeletal and cardiac anomalies without neurological deficits.
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