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, Nobuyuki; Oku, Shozo; Hasegawa, Tomonobu; Takahashi, Tsuyoshi; Fukushima, Yoshimitsu; Kawame, Hiroshi; Kosaki, Kenjiro

doi:10.1016/j.jpeds.2005.10.044

Cited by 150 publications

(171 citation statements)

References 11 publications

(8 reference statements)

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“…cChd7 expression in the otic placode in normal chick embryos agrees with the clinical observation that sensorineural hearing loss is a universal feature and that semicircular canal defects are a specific feature of CHD7 mutation-positive CHARGE patients (Aramaki et al, 2006;Vissers et al, 2004). Likewise, the documentation of cChd7 expression in the optic placode in normal chick embryos may account for the clinical observation that coloboma (iris, retinal, or optic disc coloboma) is an almost universal feature of CHARGE syndrome (Aramaki et al, 2006;Vissers et al, 2004).…”

Section: Discussionsupporting

confidence: 83%

“…Documentation of cChd7 expression in the forebrain in normal chick embryos agrees with the clinical observation that global developmental delay is a universal feature of CHARGE syndrome in humans (Aramaki et al, 2006;Vissers et al, 2004).…”

Section: Discussionsupporting

confidence: 82%

“…Likewise, the documentation of cChd7 expression in the optic placode in normal chick embryos may account for the clinical observation that coloboma (iris, retinal, or optic disc coloboma) is an almost universal feature of CHARGE syndrome (Aramaki et al, 2006;Vissers et al, 2004).…”

Section: Discussionmentioning

confidence: 98%

“…We recently performed a genotype-phenotype correlation study among 17 CHARGE syndrome patients with CHD7 mutations and found that ocular coloboma (iridis, retina, or optic nerve) was almost universal (88%) and that hearing loss and developmental delays were universal (100%) (Aramaki et al, 2006). Examining whether the primordia of organs universally affected in CHARGE syndrome patients (i.e., eyes, ears, and brain) express CHD7 in normal embryos would provide important information.…”

Section: Introductionmentioning

confidence: 99%

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Embryonic expression profile of chicken CHD7, the ortholog of the causative gene for CHARGE syndrome

Aramaki

Kimura

Udaka

et al. 2006

Birth Defects Research

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BACKGROUND: CHARGE syndrome represents a constellation of malformations: 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. Recently, the Chromodomain helicase DNA-binding protein-7 (CHD7) at chromosome 8q12.1 was identified as a causative gene for CHARGE syndrome. Because CHD7 was identified as a causative gene using a positional cloning approach, the role of CHD7 in early embryogenesis needs to be further investigated. METHODS: Fertilized chick eggs were incubated to Hamburger and Hamilton stages 4-20 and were studied using whole mount in situ hybridization. Chicken EST clones corresponding to the chicken CHD7 (cChd7) sequence were identified using the chicken EST sequence database. From the EST clones, a digoxigenin-labeled RNA probe was synthesized and hybridized in situ to the embryonic specimens. RESULTS: The expression of cChd7 was pan-neuronal at stages 8-20. It was expressed throughout the rostral neural ectoderm and along the rostrocaudal axis but was absent from the more lateral, non-neuronal ectoderm. Adjacent to the neural tube, cChd7 transcripts were detected at the optic and otic placodes. At stage 20, cChd7 expression was observed in the branchial arches and olfactory placodes in addition to brain and optic and otic placodes. CONCLUSIONS: cChd7 was expressed in the neural epithelium, the otic placodes, the optic placodes, the branchial arches, and the olfactory placodes, which are the primordial tissues that give rise to organs affected in human CHARGE syndrome patients. Birth Defects Research (Part A) 79:50-57, 2007.

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Section: Discussionsupporting

confidence: 83%

Section: Discussionsupporting

confidence: 82%

Section: Discussionmentioning

confidence: 98%

Section: Introductionmentioning

confidence: 99%

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Embryonic expression profile of chicken CHD7, the ortholog of the causative gene for CHARGE syndrome

Aramaki

Kimura

Udaka

et al. 2006

Birth Defects Research

Self Cite

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“…The term CHARGE is an acronym for the syndrome's six core features: C, coloboma of the iris/retina; H, heart defects; A, atresia of the choanae; R, retardation of growth/development; G, genital abnormalities; and E, ear abnormalities. Occurring once in every 8500-10,000 live births [42,43], CHARGE syndrome also involves a range of secondary features, including deafness, laryngomalacia, vestibulocochlear defects, facial [80][81][82][83][84][85][86][87] CHARGE = C, coloboma of the iris/retina; H, heart defects; A, atresia of the choanae; R, retardation of growth/development; G, genital abnormalities; and E, ear abnormalities; PI3K = phosphoinositide 3-kinase; AKT = protein kinase B; MAPK = mitogen-activated protein kinase; mTOR = mammalian target of rapamycin nerve palsy, and oral clefts [44][45][46][47]. Many individuals with CHARGE syndrome are reported to exhibit autistic-like behaviors, with an estimated 27.5% meeting classification for autism [45].…”

Section: Charge Syndromementioning

confidence: 99%

Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms

et al. 2015

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Autism spectrum disorder (ASD) is a group of highly genetic neurodevelopmental disorders characterized by language, social, cognitive, and behavioral abnormalities. ASD is a complex disorder with a heterogeneous etiology. The genetic architecture of autism is such that a variety of different rare mutations have been discovered, including rare monogenic conditions that involve autistic symptoms. Also, de novo copy number variants and single nucleotide variants contribute to disease susceptibility. Finally, autosomal recessive loci are contributing to our understanding of inherited factors. We will review the progress that the field has made in the discovery of these rare genetic variants in autism. We argue that mutation discovery of this sort offers an important opportunity to identify neurodevelopmental mechanisms in disease. The hope is that these mechanisms will show some degree of convergence that may be amenable to treatment intervention.

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Genital Disease in Children

Fischer¹

2019

Harper's Textbook of Pediatric Dermatology

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Phenotypic spectrum of CHARGE syndrome with CHD7 mutations

Cited by 150 publications

References 11 publications

Embryonic expression profile of chicken CHD7, the ortholog of the causative gene for CHARGE syndrome

Embryonic expression profile of chicken CHD7, the ortholog of the causative gene for CHARGE syndrome

Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms

Genital Disease in Children

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