The mutation in Chd7 causes misexpression of Bmp4 and developmental defects in telencephalic midline.

Abstract excerpt

Mutations in chromosome-helicase-DNA-binding protein 7 (CHD7) are identified as the main cause for CHARGE syndrome (coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies). Most patients (55% to 85%) with CHARGE syndrome display developmental defects in the central nervous system (CNS), of which pathology and molecular mechanisms remain unclear. In this study, we report a novel mutant...

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