ReviewJournal of bone and mineral metabolism2023
Familial Paget's disease of bone with ocular manifestations and a novel TNFRSF11A duplication variant (72dup27).
Review in Journal of bone and mineral metabolism, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Extra-osseous Roles of the RANK-RANKL-OPG Axis with a Focus on Skeletal Muscle.Current osteoporosis reports · 2024Review
- Pseudoxanthoma elasticum - Genetics, pathophysiology, and clinical presentation.Progress in retinal and eye research · 2024Review
- Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population.Journal of human genetics · 2024Article
- Newly Diagnosed Monostotic Paget's Disease of Bone during Living Kidney Donor Candidate Evaluation.Biomedicines · 2023Article
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Authors and funding
23 authors.
Funding
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Abstract
introductionPaget's disease of bone (PDB) is a skeletal disorder characterized by disorganized bone remodeling due to abnormal osteoclasts. Tumor necrosis factor receptor superfamily member 11A (TNFRSF11A) gene encodes the receptor activator of nuclear factor kappa B (RANK), which has a critical role in osteoclast function. There are five types of rare PDB and related osteolytic disorders due to TNFRSF11A tandem duplication variants so far, including familial expansile osteolysis (84dup18), expansile skeletal hyperphosphatasia (84dup15), early-onset familial PDB (77dup27), juvenile PDB (87dup15), and panostotic expansile bone disease (90dup12). MATERIALS AND
methodsWe reviewed a Japanese family with PDB, and performed whole-genome sequencing to identify a causative variant.
resultsThis family had bone symptoms, hyperphosphatasia, hearing loss, tooth loss, and ocular manifestations such as angioid streaks or early-onset glaucoma. We identified a novel duplication variant of TNFRSF11A (72dup27). Angioid streaks were recognized in Juvenile Paget's disease due to loss-of-function variants in the gene TNFRSF11B, and thought to be specific for this disease. However, the novel recognition of angioid streaks in our family raised the possibility of occurrence even in bone disorders due to TNFRSF11A duplication variants and the association of RANKL-RANK signal pathway as the pathogenesis. Glaucoma has conversely not been reported in any case of Paget's disease. It is not certain whether glaucoma is coincidental or specific for PDB with 72dup27.
conclusionOur new findings might suggest a broad spectrum of phenotypes in bone disorders with TNFRSF11A duplication variants.
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