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 m...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2021-12-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.1767 |
| _version_ | 1819174864497410048 |
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| author | Frederik Braun Andrea Gangfuß Petra Stöbe Tobias B. Haack Bernd Schweiger Andreas Roos Ulrike Schara |
| author_facet | Frederik Braun Andrea Gangfuß Petra Stöbe Tobias B. Haack Bernd Schweiger Andreas Roos Ulrike Schara |
| author_sort | Frederik Braun |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-22T20:45:45Z |
| format | Article |
| id | doaj.art-c83c235563d9420b8f27f38e94aefab1 |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-12-22T20:45:45Z |
| publishDate | 2021-12-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-c83c235563d9420b8f27f38e94aefab12022-12-21T18:13:14ZengWileyMolecular Genetics & Genomic Medicine2324-92692021-12-01912n/an/a10.1002/mgg3.1767Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease processFrederik Braun0Andrea Gangfuß1Petra Stöbe2Tobias B. Haack3Bernd Schweiger4Andreas Roos5Ulrike Schara6Department of Neuropediatrics Essen University Hospital Essen GermanyDepartment of Neuropediatrics Essen University Hospital Essen GermanyInstitute of Medical Genetics and Applied Genomics University of Tuebingen Tübingen GermanyInstitute of Medical Genetics and Applied Genomics University of Tuebingen Tübingen GermanyInstitute for Diagnostic and Interventional Radiology and Neuroradiology Essen University Hospital Essen GermanyDepartment of Neuropediatrics Essen University Hospital Essen GermanyDepartment of Neuropediatrics Essen University Hospital Essen GermanyAbstract 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.https://doi.org/10.1002/mgg3.1767BMPERdiaphanospondylodysostosisDSDischiospinal dysostosisISDskeletal dysplasia |
| spellingShingle | Frederik Braun Andrea Gangfuß Petra Stöbe Tobias B. Haack Bernd Schweiger Andreas Roos Ulrike Schara Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process Molecular Genetics & Genomic Medicine BMPER diaphanospondylodysostosis DSD ischiospinal dysostosis ISD skeletal dysplasia |
| title | Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process |
| title_full | Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process |
| title_fullStr | Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process |
| title_full_unstemmed | Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process |
| title_short | Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process |
| title_sort | expansion of the mutational spectrum of bmper leading to diaphanospondylodysostosis and description of the associated disease process |
| topic | BMPER diaphanospondylodysostosis DSD ischiospinal dysostosis ISD skeletal dysplasia |
| url | https://doi.org/10.1002/mgg3.1767 |
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