ArticleJournal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research2011
Camurati-Engelmann disease: unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand.
Article in Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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24 citing papers in PubMed, 46 citations in OpenAlex.
- Identification of a novel TGFB1 variant in a patient with Camurati-Engelmann disease responsive to alendronate.Rheumatology (Oxford, England) · 2025Article
- Clinical characteristics and the influence of rs1800470 in patients with Camurati-Engelmann disease.Frontiers in endocrinology · 2022Article
- Article
- Camurati-Engelmann Disease.Calcified tissue international · 2019Review
- Camurati-Engelmann disease: a case report from sub-Saharan Africa.Oxford medical case reports · 2018Article
- Human Genetics of Sclerosing Bone Disorders.Current osteoporosis reports · 2018Review
- Transforming growth factor-β in stem cells and tissue homeostasis.Bone research · 2018Article
- Discrepancy between bone density and bone material strength index in three siblings with Camurati-Engelmann disease.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2017Article
- The c.29T>C polymorphism of the transforming growth factor beta-1 (TGFB1) gene, bone mineral density and the occurrence of low-energy fractures in patients with inflammatory bowel disease.Molecular biology reports · 2017Article
- Skeletal Fluorosis Due To Inhalation Abuse of a Difluoroethane-Containing Computer Cleaner.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2017Article
- Multiple diaphyseal sclerosis (Ribbing disease): what about neridronate?Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2016Article
- Transforming Growth Factor β1 (TGF-β1) in the Sera of Postmenopausal Osteoporotic Females.International journal of endocrinology and metabolism · 2016Article
- Idiopathic Acquired Osteosclerosis in a Middle-Aged Woman With Systemic Lupus Erythematosus.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2016Article
- How rare bone diseases have informed our knowledge of complex diseases.BoneKEy reports · 2016Review
- Rapid skeletal turnover in a radiographic mimic of osteopetrosis.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2014Article
- Camurati-engelmann disease association with hypogonadism and primary hypothyroidism.Iranian Red Crescent medical journal · 2014Article
- Genes Downregulated in Endometriosis Are Located Near the Known Imprinting Genes.Reproductive sciences (Thousand Oaks, Calif.) · 2014Article
- Bone marrow mesenchymal stem cells and TGF-β signaling in bone remodeling.The Journal of clinical investigation · 2014Review
- Role of TGF-β in a mouse model of high turnover renal osteodystrophy.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2014Article
- Inhibition of TGF-β signaling in mesenchymal stem cells of subchondral bone attenuates osteoarthritis.Nature medicine · 2013Article
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6 authors at 4 institutions in 1 country.
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Abstract
We report a 32-year-old man and his 59-year-old mother with a unique and extensive variant of Camurati-Engelmann disease (CED) featuring histopathological changes of osteomalacia and alterations within TGFβ1 and TNFSF11 encoding TGFβ1 and RANKL, respectively. He suffered leg pain and weakness since childhood and reportedly grew until his late 20s, reaching 7 feet in height. He had deafness, perforated nasal septum, torus palatinus, disproportionately long limbs with knock-knees, low muscle mass, and pseudoclubbing. Radiographs revealed generalized skeletal abnormalities, including wide bones and cortical and trabecular bone thickening in keeping with CED, except that long bone ends were also affected. Lumbar spine and hip BMD Z-scores were + 7.7 and + 4.4, respectively. Biochemical markers of bone turnover were elevated. Hypocalciuria accompanied low serum 25-hydroxyvitamin D (25[OH]D) levels. Pituitary hypogonadism and low serum insulin-like growth factor (IGF)-1 were present. Karyotype was normal. Despite vitamin D repletion, iliac crest histology revealed severe osteomalacia. Exon 1 of TNFRSF11A (RANK), exons 2, 3, and 4 of LRP5, and all coding exons and adjacent mRNA splice junctions of TNFRSF11B (OPG), SQSTM1 (sequestosome 1), and TNSALP (tissue nonspecific alkaline phosphatase) were intact. His asymptomatic and less dysmorphic 5'11″ mother, also with low serum 25(OH)D, had milder clinical, radiological, biochemical, and histopathological findings. Both individuals were heterozygous for a novel 12-bp duplication (c.27_38dup, p.L10_L13dup) in exon 1 of TGFβ1, predicting four additional leucine residues in the latency-associated-peptide segment of TGFβ1, consistent with CED. The son was also homozygous for a single base transversion in TNFSF11, predicting a nonconservative amino acid change (c.107C > G, p.Pro36Arg) in the intracellular domain of RANKL that was heterozygous in his nonconsanguineous parents. This TNFSF11 variant was not found in the SNP Database, nor in published TNFSF11 association studies, but it occurred in four of the 134 TNFSF11 alleles (3.0%) we tested randomly among individuals without CED. Perhaps the unique phenotype of this CED family is conditioned by altered RANKL activity.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.