ArticleJournal of human genetics2018
Dysosteosclerosis is also caused by TNFRSF11A mutation.
Article in Journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 24 citations in OpenAlex.
- Bi-allelic EPHA2 mutations cause dysosteosclerosis by inhibiting osteoclastogenesis and enhancing osteoblastogenesis.Bone research · 2026Article
- The pathogenesis and intersecting mechanisms of monogenic bone mass disorders.Nature reviews. Endocrinology · 2026Review
- Paradoxical combination of osteosclerosis and osteopenia in an adult woman with biallelicJBMR plus · 2025Article
- Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.American journal of human genetics · 2023Article
- Dysosteosclerosis: Clinical and Radiological Evolution Reflecting Genetic Heterogeneity.JBMR plus · 2022Article
- A Null Mutation ofFrontiers in genetics · 2022Article
- From HDLS to BANDDOS: fast-expanding phenotypic spectrum of disorders caused by mutations in CSF1R.Journal of human genetics · 2021Review
- Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis.Journal of human genetics · 2021Article
- Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling.Nature communications · 2021Article
- The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins.Journal of human genetics · 2021Article
- Genetic disorders associated with the RANKL/OPG/RANK pathway.Journal of bone and mineral metabolism · 2021Review
- Identification of Prognostic Immune-Related Genes by Integrating mRNA Expression and Methylation in Lung Adenocarcinoma.International journal of genomics · 2020Article
- Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.American journal of human genetics · 2019Article
- One Disease, Many Genes: Implications for the Treatment of Osteopetroses.Frontiers in endocrinology · 2019Review
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dysosteosclerosis (DOS) is a form of sclerosing bone disease characterized by irregular osteosclerosis and platyspondyly. Its mode of inheritance is autosomal recessive. SLC29A3 mutations have been reported as the causal gene in two DOS families, however, genetic heterogeneity has been suggested. By whole-exome sequencing in a Turkish patient with DOS, we found a novel splice-site mutation in TNFRSF11A. TNFRSF11A mutations have previously been reported in two autosomal dominant diseases (osteolysis, familial expansile and Paget disease of bone 2, early-onset) and an autosomal recessive disease (osteopetrosis, autosomal recessive 7). The biallelic mutation, c.616+3A>G, identified in our study was located in the splice donor site of intron 6 of TNFRSF11A. Exon trapping assay indicated the mutation caused skipping of exon 6, which was predicted to induce a frame-shift and an early termination codon in all known alternative transcript variants of TNFRSF11A. The predicted effect of the mutation for the isoforms was different from those of the previously reported mutations, which could explain the difference of their phenotypes. Thus, our study identified the second disease gene for DOS. TNFRSF11A isoforms may have the different roles in skeletal development and metabolism.
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