Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process.

Abstract

BACKGROUND:

Diaphanospondylodysostosis (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.

METHODS:

We report on the case of a 22-month-old patient with DSD where trio-exome sequencing was performed.

RESULTS:

Genetic 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.

CONCLUSIONS:

Our findings expand the genotypic and phenotypic spectrum of BMPER variants leading to DSD.

• Authors: Frederik Braun, Andrea Gangfuß, Petra Stöbe, Tobias B Haack, Bernd Schweiger, Andreas Roos, Ulrike Schara
• Journal: Molecular genetics & genomic medicine (Mol Genet Genomic Med) Vol. 9 Issue 12 Pg. e1767 (12 2021) ISSN: 2324-9269 [Electronic] United States
• PMID: 34288564 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2021 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.

Chemical References

• BMPER protein, human
• Carrier Proteins

Topics

• Alleles
• Carrier Proteins (genetics)
• Craniofacial Abnormalities (diagnosis, genetics)
• Dysostoses (diagnosis, genetics)
• Facies
• Female
• Genetic Association Studies (methods)
• Genetic Predisposition to Disease
• Genotype
• Humans
• Infant
• Infant, Newborn
• Kidney (abnormalities, diagnostic imaging)
• Mutation
• Pedigree
• Phenotype
• Ribs (abnormalities)
• Spine (abnormalities, diagnostic imaging)
• Tomography, Spiral Computed