Molecular genetics & genomic medicine · 2021
Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Braun Frederik, Gangfuß Andrea, Stöbe Petra, Haack Tobias B, Schweiger Bernd, Roos Andreas, Schara Ulrike
Аннотация
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.
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.