ArticleAmerican journal of human genetics1998
Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed.
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- Porcupine inhibition is a promising pharmacological treatment for severe sclerosteosis pathologies.Bone research · 2025Article
- LRP5 high bone mass (Worth-type autosomal dominant endosteal hyperostosis): case report and historical review of the literature.Archives of osteoporosis · 2023Review
- Sclerostin ablation prevents aortic valve stenosis in mice.American journal of physiology. Heart and circulatory physiology · 2022Article
- Review
- Sclerostin is a promising therapeutic target for oral inflammation and regenerative dentistry.Journal of translational medicine · 2022Review
- Sclerostin: From Molecule to Clinical Biomarker.International journal of molecular sciences · 2022Review
- Genetic Analysis in a Familial Case With High Bone Mineral Density Suggests Additive Effects at Two Loci.JBMR plus · 2022Article
- The osteocyte as a signaling cell.Physiological reviews · 2022Review
- The genetic overlap between osteoporosis and craniosynostosis.Frontiers in endocrinology · 2022Review
- Sclerostin and Its Involvement in the Pathogenesis of Idiopathic Scoliosis.Journal of clinical medicine · 2021Review
- Molecular Basis for Craniofacial Phenotypes Caused by Sclerostin Deletion.Journal of dental research · 2021Article
- Genetics and Genomics ofInternational journal of molecular sciences · 2021Article
- Emerging insights into the comparative effectiveness of anabolic therapies for osteoporosis.Nature reviews. Endocrinology · 2021Review
- The rs1634330 Polymorphisms in theInternational journal of endocrinology · 2021Article
- Anatomical similarity between the Sost-knockout mouse and sclerosteosis in humans.Anatomical record (Hoboken, N.J. : 2007) · 2020Article
- The Role of Sclerostin in Bone and Ectopic Calcification.International journal of molecular sciences · 2020Review
- Osteocyte-Mediated Translation of Mechanical Stimuli to Cellular Signaling and Its Role in Bone and Non-bone-Related Clinical Complications.Current osteoporosis reports · 2020Review
- The Osteocyte as the New Discovery of Therapeutic Options in Rare Bone Diseases.Frontiers in endocrinology · 2020Review
- WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders.Frontiers in endocrinology · 2020Review
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10 authors.
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No grant is acknowledged in the PubMed record.
Abstract
Van Buchem disease (hyperostosis corticalis generalisata; OMIM 239100 [http://www3.ncbi.nlm.nih. gov:80/htbin-post/Omim/dispmim?239100]) is an autosomal recessive disorder characterized by hyperostosis of the skull, mandible, clavicles, ribs, and diaphyseal cortices of the long bones. The most striking clinical features are the enlargement of the jaw and the thickness of the skull, which may lead to facial nerve palsy, hearing loss, and optic atrophy. Increased formation, by osteoblasts, of qualitatively normal bone has been proposed as the underlying pathological mechanism, but the molecular defect is unknown. We studied 11 van Buchem patients and their highly inbred family, who live in The Netherlands in a small ethnic isolate, that had a common ancestor approximately 9 generations ago. A genomewide search with highly polymorphic microsatellite markers showed linkage to marker D17S1299 on chromosome 17q12-21 (maximum LOD score of 8.82 at a recombination fraction [straight theta] of .01). Analysis of additional markers from that region delineated a candidate region of <1 cM, between markers D17S1787 and D17S934. Interestingly, the only marker not showing recombination with the disease locus was an intragenic marker of the thyroid-hormone receptor alpha1 (THRA1) gene, which generated a LOD score of 12.84 at straight theta=.00. Since thyroid hormones are known to stimulate bone resorption, the THRA1 gene might be involved in the etiology and pathogenesis of van Buchem disease. Unraveling the underlying mechanism for this disorder could contribute to the understanding of the regulatory processes conditioning bone density and the underlying pathological processes.
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