Molecular Basis for Craniofacial Phenotypes Caused by Sclerostin Deletion.

ABSTRACT: Some genetic disorders are associated with distinctive facial features, which can aid in diagnosis. While considerable advances have been made in identifying causal genes, relatively little progress has been made toward understanding how a particular genotype results in a characteristic craniofacial phenotype. An example is sclerosteosis/van Buchem disease, which is caused by mutations in the Wnt inhibitor sclerostin (SOST). Affected patients have a high bone mass coupled with a distinctive appearance where the mandible is enlarged and the maxilla is foreshortened. Here, mice carrying a null mutation in Sost were analyzed using quantitative micro-computed tomographic (µCT) imaging and histomorphometric analyses to determine the extent to which the size and shape of craniofacial skel

SUBMITTER: Chen J 

PROVIDER: S-EPMC7903846 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature