Phenotypic spectrum of CHARGE syndrome with CHD7 mutations

Michihiko Aramaki, Toru Udaka, Rika Kosaki, Yoshio Makita, Nobuhiko Okamoto, Hiroshi Yoshihashi, Hirotaka Oki, Kenji Nanao, Nobuko Moriyama, Shozo Oku, Tomonobu Hasegawa, Takao Takahashi, Yoshimitsu Fukushima, Hiroshi Kawame, Kenjiro Kosaki

Research output: Contribution to journalArticlepeer-review

138 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)410-414
Number of pages5
JournalJournal of Pediatrics
Issue number3
Publication statusPublished - 2006 Mar

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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