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 ?
The research by our colleagues in South Africa led us to believe that the gene responsible for sclerosteosis was a very exciting target," said Jeff Van Ness, one of the project's founders.
The genetic samples collected in South Africa provided the starting point for the Chiroscience scientists' search for the sclerosteosis gene.
Sclerosteosis is a disfiguring, and often fatal, disorder for which there is no cure.