title: Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.
abstract: CHD7 gene mutations were identified in 17 (71%) of 24 children clinically diagnosed to have CHARGE syndrome (C, coloboma of the iris or retina; H, heart defects; A, atresia of the choanae; R, retardation of growth and/or development; G, genital anomalies; and E, ear abnormalities). Colobomata, hearing loss, laryngomalacia, and vestibulo-cochlear defect were prevalent. Molecular testing for CHD7 enables an accurate diagnosis and provides health anticipatory guidance and genetic counseling to families with CHARGE syndrome.
authors.affiliation: Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Michihiko
authors.initials: M
authors.lastname: Aramaki
authors.forename: Toru
authors.initials: T
authors.lastname: Udaka
authors.forename: Rika
authors.initials: R
authors.lastname: Kosaki
authors.forename: Yoshio
authors.initials: Y
authors.lastname: Makita
authors.forename: Nobuhiko
authors.initials: N
authors.lastname: Okamoto
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Yoshihashi
authors.forename: Hirotaka
authors.initials: H
authors.lastname: Oki
authors.forename: Kenji
authors.initials: K
authors.lastname: Nanao
authors.forename: Nobuko
authors.initials: N
authors.lastname: Moriyama
authors.forename: Shozo
authors.initials: S
authors.lastname: Oku
authors.forename: Tomonobu
authors.initials: T
authors.lastname: Hasegawa
authors.forename: Takao
authors.initials: T
authors.lastname: Takahashi
authors.forename: Yoshimitsu
authors.initials: Y
authors.lastname: Fukushima
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Kawame
authors.forename: Kenjiro
authors.initials: K
authors.lastname: Kosaki
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002754:Choanal Atresia / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D003103:Coloboma / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000235:genetics; D004265:DNA Helicases / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D004431:Ear, External / Q000002:abnormalities; D005158:Facial Paralysis / Q000235:genetics; D005260:Female; D005835:Genitalia / Q000002:abnormalities; D006130:Growth Disorders / Q000235:genetics; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D007830:Larynx / Q000002:abnormalities; D008297:Male; D009154:Mutation; D010641:Phenotype; D014138:Tracheoesophageal Fistula / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; D004265:DNA Helicases; C491434:CHD7 protein, human