ArticleAmerican journal of human genetics2010
BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing.
Article in American journal of human genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed.
- BMPER variants associated with a novel, attenuated subtype of diaphanospondylodysostosis.Journal of human genetics · 2015Trial
- Identification of conserved skeletal enhancers associated with craniosynostosis risk genes.Human molecular genetics · 2024Article
- Article
- Successfully Managed Respiratory Insufficiency in a Patient with a Novel Pathogenic Variant of theDiagnostics (Basel, Switzerland) · 2022Article
- Identification of Homozygous Regions With Adverse Effects on the Five Economic Traits of Duroc Pigs.Frontiers in veterinary science · 2022Article
- Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process.Molecular genetics & genomic medicine · 2021Article
- BMP antagonists in tissue development and disease.Matrix biology plus · 2021Review
- Production of Extracellular Matrix Proteins in the Cytoplasm ofInternational journal of molecular sciences · 2020Article
- Internal cleavage and synergy with twisted gastrulation enhance BMP inhibition by BMPER.Matrix biology : journal of the International Society for Matrix Biology · 2019Article
- Balancing selection on a recessive lethal deletion with pleiotropic effects on two neighboring genes in the porcine genome.PLoS genetics · 2018Article
- Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report.Clinical case reports · 2018Article
- Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract.Journal of the American Society of Nephrology : JASN · 2018Review
- A systematic survey to identify lethal recessive variation in highly managed pig populations.BMC genomics · 2017Article
- Agonists and Antagonists of TGF-β Family Ligands.Cold Spring Harbor perspectives in biology · 2016Review
- Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis.Orphanet journal of rare diseases · 2016Article
- Methylation-mediated BMPER expression in fibroblast activation in vitro and lung fibrosis in mice in vivo.Scientific reports · 2015Article
- Development of anaplastic Wilms tumor and subsequent relapse in a child with diaphanospondylodysostosis.Journal of pediatric hematology/oncology · 2012Article
- Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome.American journal of human genetics · 2011Article
Corrections and comments
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Authors and funding
10 authors.
Funding
Abstract
Diaphanospondylodysostosis (DSD) is a rare, recessively inherited, perinatal lethal skeletal disorder. The low frequency and perinatal lethality of DSD makes assembling a large set of families for traditional linkage-based genetic approaches challenging. By searching for evidence of unknown ancestral consanguinity, we identified two autozygous intervals, comprising 34 Mbps, unique to a single case of DSD. Empirically testing for ancestral consanguinity was effective in localizing the causative variant, thereby reducing the genomic space within which the mutation resides. High-throughput sequence analysis of exons captured from these intervals demonstrated that the affected individual was homozygous for a null mutation in BMPER, which encodes the bone morphogenetic protein-binding endothelial cell precursor-derived regulator. Mutations in BMPER were subsequently found in three additional DSD cases, confirming that defects in BMPER produce DSD. Phenotypic similarities between DSD and Bmper null mice indicate that BMPER-mediated signaling plays an essential role in vertebral segmentation early in human development.
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