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, heari...

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Bibliographic Details
Published in:The Journal of pediatrics 2006-03, Vol.148 (3), p.410-414
Main Authors: Aramaki, Michihiko, Udaka, Toru, Kosaki, Rika, Makita, Yoshio, Okamoto, Nobuhiko, Yoshihashi, Hiroshi, Oki, Hirotaka, Nanao, Kenji, Moriyama, Nobuko, Oku, Shozo, Hasegawa, Tomonobu, Takahashi, Takao, Fukushima, Yoshimitsu, Kawame, Hiroshi, Kosaki, Kenjiro
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - genetics
Adolescent
Biological and medical sciences
Child
Child, Preschool
Choanal Atresia - genetics
Cleft Palate - genetics
Coloboma - genetics
Craniofacial Abnormalities - genetics
DNA Helicases - genetics
DNA-Binding Proteins - genetics
Ear, External - abnormalities
Facial Paralysis - genetics
Female
General aspects
Genitalia - abnormalities
Growth Disorders - genetics
Heart Defects, Congenital - genetics
Humans
Infant
Larynx - abnormalities
Male
Medical sciences
Mutation
Phenotype
Tracheoesophageal Fistula - genetics
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Summary: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.
ISSN:0022-3476
1097-6833
DOI:10.1016/j.jpeds.2005.10.044