Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.
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.
Aramaki
Michihiko
M
Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Udaka
Toru
T
Kosaki
Rika
R
Makita
Yoshio
Y
Okamoto
Nobuhiko
N
Yoshihashi
Hiroshi
H
Oki
Hirotaka
H
Nanao
Kenji
K
Moriyama
Nobuko
N
Oku
Shozo
S
Hasegawa
Tomonobu
T
Takahashi
Takao
T
Fukushima
Yoshimitsu
Y
Kawame
Hiroshi
H
Kosaki
Kenjiro
K
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
D004268:DNA-Binding Proteins; D004265:DNA Helicases; C491434:CHD7 protein, human