Sclerosteosis

Common Name(s)

Sclerosteosis, Cortical Hyperostosis Syndactyly

Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by {8:Brunkow et al., 2001}). Genetic Heterogeneity of Sclerosteosis Sclerosteosis-2 (SOST2; {614305}) is caused by mutation in the LRP4 gene ({604270}) on chromosome 11p11.2.
 

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Condition Specific Organizations

Following organizations serve the condition "Sclerosteosis" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Sclerosteosis" returned 7 free, full-text research articles on human participants. First 3 results:

Polymorphisms in the sclerosteosis/van Buchem disease gene (SOST) region are associated with bone-mineral density in elderly whites.
 

Author(s): Andre G Uitterlinden, Pascal P Arp, Bryan W Paeper, Patrick Charmley, Sean Proll, Fernando Rivadeneira, Yue Fang, Joyce B J van Meurs, Theresa B Britschgi, John A Latham, Randall C Schatzman, Huibert A P Pols, Mary E Brunkow

Journal: Am. J. Hum. Genet.. 2004 Dec;75(6):1032-45.

 

Osteoporosis has a strong genetic component, but the genes involved are poorly defined. We studied whether the sclerosteosis/van Buchem disease gene (SOST) is an osteoporosis-risk gene by examining its association with bone-mineral density (BMD). Mutations in SOST result in sclerosteosis, ...

Last Updated: 29 Oct 2004

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Cbfa1/RUNX2 directs specific expression of the sclerosteosis gene (SOST).
 

Author(s): Brad Sevetson, Scott Taylor, Yang Pan

Journal: J. Biol. Chem.. 2004 Apr;279(14):13849-58.

 

Loss-of-function mutations in the sclerosteosis gene (SOST) cause a rare sclerosing bone dysplasia characterized by skeletal overgrowth. Cbfa1/RUNX2 is a key transcriptional regulator of osteoblast function. Here we link these two pathways by demonstrating, via gel shift and transient ...

Last Updated: 29 Mar 2004

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Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST).
 

Author(s): W Balemans, M Ebeling, N Patel, E Van Hul, P Olson, M Dioszegi, C Lacza, W Wuyts, J Van Den Ende, P Willems, A F Paes-Alves, S Hill, M Bueno, F J Ramos, P Tacconi, F G Dikkers, C Stratakis, K Lindpaintner, B Vickery, D Foernzler, W Van Hul

Journal: Hum. Mol. Genet.. 2001 Mar;10(5):537-43.

 

Sclerosteosis is a progressive sclerosing bone dysplasia with an autosomal recessive mode of inheritance. Radiologically, it is characterized by a generalized hyperostosis and sclerosis leading to a markedly thickened and sclerotic skull, with mandible, ribs, clavicles and all long ...

Last Updated: 22 Feb 2001

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Sclerosteosis" returned 1 free, full-text review articles on human participants. First 3 results:

Identification of the disease-causing gene in sclerosteosis--discovery of a novel bone anabolic target?
 

Author(s): W Balemans, W Van Hul

Journal: J Musculoskelet Neuronal Interact. 2004 Jun;4(2):139-42.

 

Genetic studies recently unraveled the genetic cause of sclerosteosis, a rare skeletal dysplasia characterized by a generalized increase in bone mass. Different loss-of-function mutations were identified in SOST, a gene with no homology to any known gene. This SOST gene is also involved ...

Last Updated: 23 Dec 2004

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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