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 journalArticle

108 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)410-414
Number of pages5
JournalJournal of Pediatrics
Volume148
Issue number3
DOIs
Publication statusPublished - 2006 Mar

Fingerprint

CHARGE Syndrome
Coloboma
Laryngomalacia
Mutation
Nasopharynx
Cochlea
Genetic Counseling
Iris
Growth and Development
Hearing Loss
Ear
Retina
Health
Genes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Aramaki, M., Udaka, T., Kosaki, R., Makita, Y., Okamoto, N., Yoshihashi, H., ... Kosaki, K. (2006). Phenotypic spectrum of CHARGE syndrome with CHD7 mutations. Journal of Pediatrics, 148(3), 410-414. https://doi.org/10.1016/j.jpeds.2005.10.044

Phenotypic spectrum of CHARGE syndrome with CHD7 mutations. / 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.

In: Journal of Pediatrics, Vol. 148, No. 3, 03.2006, p. 410-414.

Research output: Contribution to journalArticle

Aramaki, M, Udaka, T, Kosaki, R, Makita, Y, Okamoto, N, Yoshihashi, H, Oki, H, Nanao, K, Moriyama, N, Oku, S, Hasegawa, T, Takahashi, T, Fukushima, Y, Kawame, H & Kosaki, K 2006, 'Phenotypic spectrum of CHARGE syndrome with CHD7 mutations', Journal of Pediatrics, vol. 148, no. 3, pp. 410-414. https://doi.org/10.1016/j.jpeds.2005.10.044
Aramaki M, Udaka T, Kosaki R, Makita Y, Okamoto N, Yoshihashi H et al. Phenotypic spectrum of CHARGE syndrome with CHD7 mutations. Journal of Pediatrics. 2006 Mar;148(3):410-414. https://doi.org/10.1016/j.jpeds.2005.10.044
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. / Phenotypic spectrum of CHARGE syndrome with CHD7 mutations. In: Journal of Pediatrics. 2006 ; Vol. 148, No. 3. pp. 410-414.
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