Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
Volume 175, Issue 4, Pages 478-486Publisher
WILEY
DOI: 10.1002/ajmg.c.31584
Keywords
CHARGE syndrome; CHD7; chromatin remodeling; neural crest; neural crest development
Categories
Funding
- Deutsche Forschungsgemeinschaft [BO 1978/5-1, PA 2030/2-1, PA2030/1-3]
- National Institute of Dental and Craniofacial Research [DE024584]
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Neural crest cells are highly migratory pluripotent cells that give rise to diverse derivatives including cartilage, bone, smooth muscle, pigment, and endocrine cells as well as neurons and glia. Abnormalities in neural crest-derived tissues contribute to the etiology of CHARGE syndrome, a complex malformation disorder that encompasses clinical symptoms like coloboma, heart defects, atresia of the choanae, retarded growth and development, genital hypoplasia, ear anomalies, and deafness. Mutations in the chromodomain helicase DNA-binding protein 7 (CHD7) gene are causative of CHARGE syndrome and loss-of-function data in different model systems have firmly established a role of CHD7 in neural crest development. Here, we will summarize our current understanding of the function of CHD7 in neural crest development and discuss possible links of CHARGE syndrome to other developmental disorders.
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