sclerosteosis


Also found in: Acronyms.

SOST

A gene on chromosome17q11.2 that encodes sclerostin, a secreted glycoprotein with a C-terminal cysteine knot-like (CTCK) domain and sequence similarity to the DAN (differential screening-selected gene aberrative in neuroblastoma) family of bone morphogenetic protein (BMP) antagonists.

Molecular pathology
Loss-of-function mutations in SOST are linked to sclerosteosis; a deletion downstream of SOST causes reduced sclerostin expression, resulting in a milder sclerosteosis (van Buchem disease).

sclerosteosis

A bone abnormality involving increased density.
References in periodicals archive ?
Steenackers et al., "A novel domain-specific mutation in a sclerosteosis patient suggests a role of LRP4 as an anchor for sclerostin in human bone," Journal of Bone & Mineral Research, vol.
The differential diagnosis is of CED is endosteal hyperostosis--van Buchem, sclerosteosis, Kenny-Caffey disease and Worth type.