ArticleMolecular genetics & genomic medicine2021
Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process.
Article in Molecular genetics & genomic medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed, 4 citations in OpenAlex.
- Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect.Clinical genetics · 2025Article
- Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process.Molecular genetics & genomic medicine · 2021Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDiaphanospondylodysostosis (DSD) is a rare congenital, lethal skeletal disorder caused by recessively inherited mutations in the BMPER gene, which encodes the bone morphogenetic protein-binding endothelial cell precursor-derived regulator. The most prominent features of DSD are missing ossification of the axial skeleton, rib abnormalities and thoracic hypoplasia/insufficiency, as well as intralobar nephrogenic rests within the kidneys.
methodsWe report on the case of a 22-month-old patient with DSD where trio-exome sequencing was performed.
resultsGenetic testing revealed a homozygous nonsense variant c.1577G>A (p.Trp526*) in the BMPER gene, leading to a premature stop in protein translation. Both parents are asymptomatic carriers for the BMPER variant, which has not been described in the literature before.
conclusionsOur findings expand the genotypic and phenotypic spectrum of BMPER variants leading to DSD.
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