Hide and seek: Somatic SMAD3 mutations in melorheostosis

In the current issue of JEM, Kang et al. (https://doi.org/10.1084/jem.20191499) describe somatic mutations in the SMAD3 gene causing endosteal melorheostosis. Using osteoblast models, the identified mutations are demonstrated to exert a gain-of-function mechanism, augmenting transforming growth factor (TGF) beta signaling. These findings provide further insights into the genetic etiology of melorheostosis and consolidate the importance of the TGF beta pathway in skeletal disorders.

Jaar van publicatie:2020

Trefwoorden:Editorial

Toegankelijkheid:Open