title: Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.
abstract: CHARGE syndrome [coloboma of the eye, heart defects, atresia of the choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities (including deafness)] is a genetic disorder characterized by a specific and a recognizable pattern of anomalies. De novo mutations in the gene encoding chromodomain helicase DNA binding protein 7 (CHD7) are the major cause of CHARGE syndrome. Here, we review the clinical features of 379 CHARGE patients who tested positive or negative for mutations in CHD7. We found that CHARGE individuals with CHD7 mutations more commonly have ocular colobomas, temporal bone anomalies (semicircular canal hypoplasia/dysplasia), and facial nerve paralysis compared with mutation negative individuals. We also highlight recent genetic and genomic studies that have provided functional insights into CHD7 and the pathogenesis of CHARGE syndrome.
authors.affiliation: Department of Genetics, Case Western Reserve University, Cleveland, Ohio, USA.
authors.forename: Gabriel E
authors.initials: GE
authors.lastname: Zentner
authors.forename: Wanda S
authors.initials: WS
authors.lastname: Layman
authors.forename: Donna M
authors.initials: DM
authors.lastname: Martin
authors.forename: Peter C
authors.initials: PC
authors.lastname: Scacheri
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000818:Animals; D003103:Coloboma / Q000235:genetics; D004265:DNA Helicases / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D004195:Disease Models, Animal; D007758:Ear, Inner / Q000002:abnormalities; D005158:Facial Paralysis / Q000235:genetics; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D051379:Mice; D008817:Mice, Mutant Strains; D009154:Mutation; D010641:Phenotype; D013577:Syndrome; D014566:Urogenital System
chemical_list: D004268:DNA-Binding Proteins; D004265:DNA Helicases; C491434:CHD7 protein, human