Human genetics of SOST

Journal of Musculoskeletal Neuronal Interactions

Volumn 6, Issue 4, 2006, Pages 355-356

  Balemans, W ^a   Van Hul, Wim ^a  

^a ANTWERP UNIVERSITY HOSPITAL   (Belgium)

Author keywords

Sclerosteosis; Sclerostin; SOST; Van Buchem disease

Indexed keywords

GLYCOPROTEIN; SCLEROSTIN; UNCLASSIFIED DRUG;

AUTOSOMAL RECESSIVE INHERITANCE; BONE RADIOGRAPHY; ENHANCER REGION; FAMILY STUDY; GENE ASSIGNMENT; GENE DELETION; GENE IDENTIFICATION; GENE LOCATION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; NONSENSE MUTATION; OSTEOSCLEROSIS; PREVALENCE; PROTEIN EXPRESSION; REVIEW; RNA SPLICING; STOP CODON; TRANSCRIPTION REGULATION;

ALLELES; BONE AND BONES; BONE DISEASES, DEVELOPMENTAL; BONE MORPHOGENETIC PROTEINS; CODON, NONSENSE; GENETIC MARKERS; HUMANS;

EID: 33846265659     PISSN: 11087161     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (9)

1. Beighton P, Barnard A, Hamersma H, van der Wouden A. The syndromic status of sclerosteosis and van Buchem disease. Clin Genet 1984; 25:175-181.
2. Van Hul W, Balemans W, Van Hul E, Dikkers FG, Obee H, Stokroos RJ, Hildering P, Vanhoenacker F, Van Camp G, Willems PJ. Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17ql2-q2l. Am J Hum Genet 1998; 62:391-399.
3. Balemans W, Van Den Ende J, Freire Paes-Alves A, Dikkers FG, Willems PJ, Vanhoenacker F, de Almeida-Melo N, Alves CF, Stratakis CA, Hill SC, Van Hul W. Localization of the gene for sclerosteosis to the van Buchem disease-gene region on chromosome 17ql2-q2l. Am J Hum Genet 1999; 64:1661-1669.
4. Balemans W, Ebeling M, Patel N, Van Hul E, Olson P, Dioszegi M, Lacza C, Wuyts W, Van Den Ende J, Willems P, Paes-Alves AF, Hill S, Bueno M, Ramos FJ, Tacconi P, Dikkers FG, Stratakis C, Lindpaintner K, Vickery B, Foernzler D, Van Hul W. Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST). Hum Mol Genet 2001; 10:537-543.
5. Brunkow ME, Gardner JC, Van Ness J, Paeper BW, Kovacevich BR, Proll S, Skonier JE, Zhao L, Sabo PJ, Fu Y, Alisch RS, Gillett L, Colbert T, Tacconi P, Galas D, Hamersma H, Beighton P, Mulligan J. Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein. Am J Hum Genet 2001; 68:577-589.
6. Balemans W, Cleiren E, Siebers U, Horst J, Van Hul W. A generalized skeletal hyperostosis in two siblings caused by a novel mutation in the SOST gene. Bone 2005; 36:943-947.
7. Balemans W, Patel N, Ebeling M, Van Hul E, Wuyts W, Lacza C, Dioszegi M, Dikkers FG, Hildering P, Willems PJ, Verheij JB, Lindpaintner K, Vickery B, Foernzler D, Van Hul W. Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease. J Med Genet 2002; 39:91-97.
8. Staehling-Hampton K, Proll S, Paeper BW, Zhao L, Charmley P, Brown A, Gardner JC, Galas D, Schatzman RC, Beighton P, Papapoulos S, Hamersma H, Brunkow ME. A 52-kb deletion in the SOST-MEOXI intergenic region on 17ql2-q2l is associated with van Buchem disease in the Dutch population. Am J Med Genet 2002; 110:144-152.
9. Loots GG, Kneissel M, Keller H, Baptist M, Chang J, Collette NM, Ovcharenko D, Plajzer-Frick I, Rubin EM. Genomic deletion of a long-range bone enhancer misregulates sclerostin in van Buchem disease. Genome Res 2005; 15:928-935.