CHARGE syndrome: an update

Sanlaville, Damien; Verloes, Alain

doi:10.1038/sj.ejhg.5201778

Cited by 332Congenital Ear and Nasal AnomaliesCraniofacial Disorders and TreatmentsHearing, Cochlea, Tinnitus, Genetics

CHARGE syndrome: an update

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Sanlaville, Damien, Verloes, Alain·2007·European Journal of Human Genetics

DOI 10.1038/sj.ejhg.5201778

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Abstract

CHARGE syndrome is a rare, usually sporadic autosomal dominant disorder due in 2/3 of cases to mutations within the CHD7 gene. The clinical definition has evolved with time. The 3C triad (Coloboma-Choanal atresia-abnormal semicircular Canals), arhinencephaly and rhombencephalic dysfunctions are now considered the most important and constant clues to the diagnosis. We will discuss here recent aspects of the phenotypic delineation of CHARGE syndrome and highlight the role of CHD7 in its pathogeny. We review available data on its molecular pathology as well as cytogenetic and molecular evidences for genetic heterogeneity within CHARGE syndrome.

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Individuals without inner ears due to a rare genetic disorder must coordinate information from multiple other sensory systems when they run.
“Without being able to rely as others do on the vestibular system, when he runs, he must coordinate information from multiple other sensory systems.”
From Understanding Agent Complexity Through Affordances (2025) · cites this paper as Sanlaville and Verloes, 2007
The Auditory and vestibular anomalies section describes absent semicircular canals and impaired vestibular responses in CHARGE syndrome. The Motor milestones section links delayed movement to vestibular and visual impairments. Neither section says that affected individuals coordinate information from multiple other sensory systems when running; the paper also describes inner-ear malformations, not necessarily the absence of the entire inner ear. (LLM, conf=0.85)
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Authors: Sanlaville, D., & Verloes, A.
Affiliations: Hôpital Necker-Enfants Malades (FR)
ORCID: Sanlaville, Damien
Venue: European Journal of Human Genetics
Publisher: Springer Science and Business Media LLC
Published: 2007-02-14
Volume: 15
Issue: 4
Pages: 389-399
ISSN: 1018-4813 (ISSN-L)
1476-5438
DOI: 10.1038/sj.ejhg.5201778
OpenAlex: W1969370783
Cited by: 332
References: 98
Citations by year: 2026: 8 · 2025: 19 · 2024: 11 · 2023: 14 · 2022: 16 · 2021: 10 · 2020: 20 · 2019: 15 · 2018: 18 · 2017: 15 · 2016: 17 · 2015: 11 · 2014: 24 · 2013: 15 · 2012: 22
FWCI: 2.56
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.springer.com/tdm (tdm)
Locations: European Journal of Human Genetics (publishedVersion)
PubMed (publishedVersion)
Topics: Health Sciences › Medicine › Genetics › Congenital Ear and Nasal Anomalies
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Craniofacial Disorders and Treatments
Life Sciences › Neuroscience › Sensory Systems › Hearing, Cochlea, Tinnitus, Genetics
Keywords: CHARGE syndrome, CHD7, coloboma, choanal atresia, arhinencephaly, autosomal dominant disorder, genetic heterogeneity, pathogenesis, phenotypic delineation
MeSH terms: Abnormalities, Multiple, Central Nervous System Diseases, Choanal Atresia, Coloboma, DNA Helicases, DNA-Binding Proteins, Female, Growth Disorders, Heart Defects, Congenital, Humans, Male, Mutation, Pregnancy, Prenatal Diagnosis, Syndrome, Vestibular Diseases, Holoprosencephaly, Craniofacial Abnormalities, Chromosome Disorders

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