Erschienen in:Molecular Genetics & Genomic Medicine
Sprache:
Englisch
DOI:
10.1002/mgg3.1767
ISSN:
2324-9269
Entstehung:
Anmerkungen:
Beschreibung:
<jats:title>Abstract</jats:title><jats:sec><jats:title>Background</jats:title><jats:p>Diaphanospondylodysostosis (DSD) is a rare congenital, lethal skeletal disorder caused by recessively inherited mutations in the <jats:italic>BMPER</jats:italic> 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.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>We report on the case of a 22‐month‐old patient with DSD where trio‐exome sequencing was performed.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>Genetic testing revealed a homozygous nonsense variant c.1577G>A (p.Trp526*) in the <jats:italic>BMPER</jats:italic> gene, leading to a premature stop in protein translation. Both parents are asymptomatic carriers for the <jats:italic>BMPER</jats:italic> variant, which has not been described in the literature before.</jats:p></jats:sec><jats:sec><jats:title>Conclusions</jats:title><jats:p>Our findings expand the genotypic and phenotypic spectrum of <jats:italic>BMPER</jats:italic> variants leading to DSD.</jats:p></jats:sec>