ArticleMolecular genetics & genomic medicine2019
Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 17 citations in OpenAlex.
- Genotype-phenotype correlation of BMPR1a disease causing variants in juvenile polyposis syndrome.Hereditary cancer in clinical practice · 2023Review
- Augmentation of bone morphogenetic protein signaling in cranial neural crest cells in mice deforms skull base due to premature fusion of intersphenoidal synchondrosis.Genesis (New York, N.Y. : 2000) · 2023Article
- BMP signaling during craniofacial development: new insights into pathological mechanisms leading to craniofacial anomalies.Frontiers in physiology · 2023Review
- Activin receptor-like kinase 3: a critical modulator of development and function of mineralized tissues.Frontiers in cell and developmental biology · 2023Review
- Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features.Molecular genetics & genomic medicine · 2019Article
Corrections and comments
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Authors and funding
13 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundThe bone morphogenetic protein (BMP) pathway is known to play an imperative role in bone, cartilage, and cardiac tissue formation. Truncating, heterozygous variants, and deletions of one of the essential receptors in this pathway, Bone Morphogenetic Protein Receptor Type1A (BMPR1A), have been associated with autosomal dominant juvenile polyposis. Heterozygous deletions have also been associated with cardiac and minor skeletal anomalies. Populations with atrioventricular septal defects are enriched for rare missense BMPR1A variants.
methodsWe report on a patient with a homozygous missense variant in BMPR1A causing skeletal abnormalities, growth failure a large atrial septal defect, severe subglottic stenosis, laryngomalacia, facial dysmorphisms, and developmental delays.
resultsFunctional analysis of this variant shows increased chondrocyte death for cells with the mutated receptor, increased phosphorylated R-Smads1/5/8, and loss of Sox9 expression mediated by decreased phosphorylation of p38.
conclusionThis homozygous missense variant in BMPR1A appears to cause a distinct clinical phenotype.
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Registered trials
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