Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders.

Siddharth SrivastavaTejasvi NiranjanMelanie M MayPatrick TarpeyWilliam AllenAnna HackettPierre-Simon JoukLucy RaymondSlyvain BriaultCindy SkinnerAnnick ToutainJozef GeczWilliam HeathRoger E StevensonCharles E Schwartz Tao Wang

Published in: Molecular genetics & genomic medicine (2019)

These results support a critical role of MED12 in regulating Gli3-dependent SHH signaling and in developing ID and related congenital malformations in XLID syndromes. Differences in the expression profile of SHH-signaling genes potentially contribute to variability in clinical phenotypes in patients with MED12-related XLID disorders.

Keyphrases

intellectual disability
autism spectrum disorder
gene expression
drug induced