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

J Pediatr. 2006 Mar;148(3):410-4. doi: 10.1016/j.jpeds.2005.10.044.

Authors

Michihiko Aramaki¹, 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

Affiliation

¹ Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

PMID: 16615981
DOI: 10.1016/j.jpeds.2005.10.044

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / genetics*
Adolescent
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
Genitalia / abnormalities
Growth Disorders / genetics
Heart Defects, Congenital / genetics
Humans
Infant
Larynx / abnormalities
Male
Mutation*
Phenotype*
Tracheoesophageal Fistula / genetics

Substances

DNA-Binding Proteins
DNA Helicases
CHD7 protein, human