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

doi:10.1016/j.jpeds.2005.10.044

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 journal › Article › peer-review

119 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 language	English
Pages (from-to)	410-414
Number of pages	5
Journal	Journal of Pediatrics
Volume	148
Issue number	3
DOIs	https://doi.org/10.1016/j.jpeds.2005.10.044
Publication status	Published - 2006 Mar

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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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 journal › Article › peer-review

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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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.",

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

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AU - Aramaki, Michihiko

AU - Udaka, Toru

AU - Kosaki, Rika

AU - Makita, Yoshio

AU - Okamoto, Nobuhiko

AU - Yoshihashi, Hiroshi

AU - Oki, Hirotaka

AU - Nanao, Kenji

AU - Moriyama, Nobuko

AU - Oku, Shozo

AU - Hasegawa, Tomonobu

AU - Takahashi, Takao

AU - Fukushima, Yoshimitsu

AU - Kawame, Hiroshi

AU - Kosaki, Kenjiro

PY - 2006/3

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AB - 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.

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Phenotypic spectrum of CHARGE syndrome with CHD7 mutations

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