ArticleOsteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA2019
A novel FAM20C mutation causing hypophosphatemic osteomalacia with osteosclerosis (mild Raine syndrome) in an elderly man with spontaneous osteonecrosis of the knee.
Article in Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 30 citations in OpenAlex.
- When X Does Not Mark the Spot: Autosomal Dominant and Recessive Forms of Renal Hypophosphatemic Rickets and Osteomalacia.Current osteoporosis reports · 2026Review
- FAM20C: A key protein kinase in multiple diseases.Genes & diseases · 2025Review
- Potential Role of Protein Kinase FAM20C on the Brain in Raine Syndrome, an In Silico Analysis.International journal of molecular sciences · 2023Article
- Global guidance for the recognition, diagnosis, and management of tumor-induced osteomalacia.Journal of internal medicine · 2023Review
- Non-lethal Raine Syndrome Report Lacking Characteristic Clinical Features.Journal of molecular neuroscience : MN · 2021Article
- FAM20C Overview: Classic and Novel Targets, Pathogenic Variants and Raine Syndrome Phenotypes.International journal of molecular sciences · 2021Review
- Nonlethal Raine Syndrome in a Newborn Boy Caused by a NovelMolecular syndromology · 2021Article
- Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium.Frontiers in endocrinology · 2021Review
- Validation of a next-generation sequencing (NGS) panel to improve the diagnosis of X-linked hypophosphataemia (XLH) and other genetic disorders of renal phosphate wasting.European journal of endocrinology · 2020Article
- Bone mineral density and bone microarchitecture in a cohort of patients with Erdheim-Chester Disease.Orphanet journal of rare diseases · 2020Article
- A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age.Calcified tissue international · 2020Article
- Natural history of non-lethal Raine syndrome during childhood.Orphanet journal of rare diseases · 2020Article
- Two NovelGenes · 2020Article
- High FGF23 levels are associated with impaired trabecular bone microarchitecture in patients with osteoporosis.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2019Article
- Regulation of Fibroblast Growth Factor 23 by Iron, EPO, and HIF.Current molecular biology reports · 2019Article
- High-Phosphate Diet Improved the Skeletal Development of Fam20c-Deficient Mice.Cells, tissues, organs · 2019Article
- The ABCs of the atypical Fam20 secretory pathway kinases.The Journal of biological chemistryReview
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5 authors at 2 institutions in 1 country.
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Abstract
Raine syndrome is characterized by FGF23-mediated hypophosphatemic osteomalacia with osteosclerosis caused by mutations in the FAM20C gene. We report a case of a 72-year-old man who presented with rapid progressive spontaneous osteonecrosis of the knee (SONK). A full osteologic assessment including dual energy X-ray absorptiometry (DXA), high-resolution peripheral quantitative computed tomography (HR-pQCT), and serum analyses revealed a high bone mass in the lumbar spine and hip (DXA T-score + 7.5 and + 4.7/+4.2) with increased bone microstructural parameters in the distal radius and tibia (BV/TV 127%, 140% of the age-matched mean, respectively), as well as a low bone turnover state. Phosphate levels were low due to renal phosphate wasting and high FGF23 levels (126.5 pg/ml, reference range 23.2-95.4 pg/ml). Using gene panel sequencing, we identified a novel FAM20C heterozygous missense mutation in combination with a homozygous duplication that potentially alters splicing. Taken together, this is the first case of mild Raine syndrome with spontaneous osteonecrosis of the knee, phosphate wasting, and a pronounced trabecular high bone mass phenotype.
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