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Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1
Abstract
Variants in MBTPS1 (membrane‐bound transcription factor peptidase, site 1) encoding the protein convertase site‐1 protease (S1P) were recently reported in a single individual with skeletal dysplasia and elevated plasma lysosomal enzymes. Here, we report the second individual with this newly described autosomal recessive spondyloepiphyseal dysplasia (OMIM #618392), presenting severe growth retardation, cataract and dysmorphic features, mainly retromicrognathia. Epilepsy and craniosynostosis were novel findings in our proband. She was found to be homozygous for a novel nonsense variant p.Trp983Ter in MBTPS1. In addition, she had normal levels of lysosomal enzyme activity in leukocytes but elevated levels in plasma. Our description confirms the existence of this new skeletal dysplasia and expands the phenotype and genotype of the disease.
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These individuals present with skeletal dysplasia and elevated levels of mistargeted lysosomal enzymes in their circulation.
“Clinically, these individuals present with skeletal dysplasia and elevated levels of mistargeted lysosomal enzymes in their circulation.”
From Hepatic SREBP signaling requires SPRING to govern systemic lipid metabolism in mice and humans (2023) · cites this paper as [41]
Three individuals carrying severe homozygous loss-of-function MBTPS1 alleles have been reported.
“three individuals carrying severe homozygous loss-of-function MBTPS1 alleles have been recently reported39–41”
From Hepatic SREBP signaling requires SPRING to govern systemic lipid metabolism in mice and humans (2023) · cites this paper as [41]
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Nosology and classification of genetic skeletal disorders: 2019 revision
Mortier, G. R., Cohn, D. H., Cormier‐Daire, V., Hall, C., Krakow, D., Mundlos, S., Nishimura, G., Robertson, S., Sangiorgi, L., Savarirayan, R., et al. (2019) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61366 · Cited by 600
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Research works printed but not linked: 10
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Hepatic SREBP signaling requires SPRING to govern systemic lipid metabolism in mice and humans
Hendrix, S., Kingma, J., Ottenhoff, R., Valiloo, M., Svecla, M., Zijlstra, L. F., Sachdev, V., Kovac, K., Levels, J. H. M., Jongejan, A., et al. (2023) · Nature Communications · doi:10.1038/s41467-023-40943-1 · Cited by 34
Metadata
- Authors
- Carvalho, D. R., Speck‐Martins, C. E., Brum, J. M., Ferreira, C. R., & Sobreira, N. L. M.
- Affiliations
- SARAH Network of Rehabilitation Hospitals Brasilia Brazil
- Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA
- McKusick‐Nathans Department of Genetic Medicine Johns Hopkins School of Medicine Baltimore Maryland USA
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2020-05-18
- Volume
- 182
- Issue
- 7
- Pages
- 1796-1800
- ISSN
- 1552-4825
- 1552-4833
- PMC
- PMC8136467
- Cited by
- 21
- References
- 1
- Language
- en
- Funders
- National Human Genome Research Institute (UM1 HG006542)
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