Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein.

ABSTRACT: Sclerosteosis is an autosomal recessive sclerosing bone dysplasia characterized by progressive skeletal overgrowth. The majority of affected individuals have been reported in the Afrikaner population of South Africa, where a high incidence of the disorder occurs as a result of a founder effect. Homozygosity mapping in Afrikaner families along with analysis of historical recombinants localized sclerosteosis to an interval of approximately 2 cM between the loci D17S1787 and D17S930 on chromosome 17q12-q21. Here we report two independent mutations in a novel gene, termed "SOST." Affected Afrikaners carry a nonsense mutation near the amino terminus of the encoded protein, whereas an unrelated affected person of Senegalese origin carries a splicing mutation within the single intron of the gene.

SUBMITTER: Brunkow ME 

PROVIDER: S-EPMC1274471 | biostudies-literature | 2001 Mar

REPOSITORIES: biostudies-literature