A syndrome mostly attributed to a mutation in CHD7 gene of chromosome 8
CHARGE syndrome is a genetic disorder that is named after the acronym of the symptoms characterizing it: C for colobama, H for heart defects, A for atresia (of the nasal choanae), R for retardation of growth, G for genital hypoplasia, and E‘ for ear defects including deafness. The acronym name was first coined by Dr. R. A. Pagon in 1981. It was first called CHARGE association for the presence of a cluster of such symptoms occurring together.1
CHARGE syndrome is a rare genetic disorder that involves mostly the CHD7 gene of chromosome 8. The gene codes for a protein that is a member of the chromodomain helicase DNA-binding protein family associated with the transcription regulation by chromatin remodeling.2
- CHARGE association
1 Pagon, R.A., Graham, J.M., Zonana, J., & Yong, S.L. (1981). “Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association”. J. Pediatr., 99 (2): 223–7.
2 Janssen, N., Bergman, J.E., Swertz, M.A., Tranebjaerg, L., Lodahl, M., Schoots, J., Hofstra, R.M., van Ravenswaaij-Arts, C.M., & Hoefsloot, L.H. (2012). “Mutation update on the CHD7 gene involved in CHARGE syndrome”. Human Mutation, 33 (8): 1149–1160.