ReviewAmerican journal of medical genetics. Part C, Seminars in medical genetics2017
Inner ear manifestations in CHARGE: Abnormalities, treatments, animal models, and progress toward treatments in auditory and vestibular structures.
Review in American journal of medical genetics. Part C, Seminars in medical genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
14 citing papers in PubMed, 21 citations in OpenAlex.
- Analysis of the clinical features of neurocristopathy-related hearing loss and how these relate to outcomes after cochlear implantation.Scientific reports · 2025Article
- [Expert consensus on auditory intervention and language rehabilitation of CHARGE syndrome].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2025Article
- Genetic and Clinical Predictors of Hearing Loss Among Patients with CHARGE Syndrome.Journal of the American Academy of Audiology · 2025Article
- Development of the semicircular canals and otolithic organs of the vertebrate inner ear.Current topics in developmental biology · 2025Review
- CHARGE syndrome in a child with aClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2024Article
- Review
- Loss of the chromatin remodeler CHD7 impacts glial cells and myelination in the mouse cochlear spiral ganglion.Hearing research · 2022Article
- CHD7 regulates otic lineage specification and hair cell differentiation in human inner ear organoids.Nature communications · 2022Article
- Imaging of inner ear malformations: a primer for radiologists.La Radiologia medica · 2021Review
- The development of an educational checklist for individuals with CHARGE syndrome.International journal of developmental disabilities · 2021Article
- Approaches for the study of epigenetic modifications in the inner ear and related tissues.Hearing research · 2019Review
- Neural crest contributions to the ear: Implications for congenital hearing disorders.Hearing research · 2019Review
- Single Cell Transcriptomics Reveal Abnormalities in Neurosensory Patterning of theFrontiers in genetics · 2018Article
- Loss of embryonic vestibular ganglion neurons in a chick model of congenital vestibular disorders.Frontiers in neurologyArticle
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
The inner ear contains the sensory organs for hearing and balance. Both hearing and balance are commonly affected in individuals with CHARGE syndrome (CS), an autosomal dominant condition caused by heterozygous pathogenic variants in the CHD7 gene. Semicircular canal dysplasia or aplasia is the single most prevalent feature in individuals with CHARGE leading to deficient gross motor skills and ambulation. Identification of CHD7 as the major gene affected in CHARGE has enabled acceleration of research in this field. Great progress has been made in understanding the role of CHD7 in the development and function of the inner ear, as well as in related organs such as the middle ear and auditory and vestibular neural pathways. The goals of current research on CHD7 and CS are to (a) improve our understanding of the pathology caused by CHD7 pathogenic variants and (b) to provide better tools for prognosis and treatment. Current studies utilize cells and whole animals, from flies to mammals. The mouse is an excellent model for exploring mechanisms of Chd7 function in the ear, given the evolutionary conservation of ear structure, function, Chd7 expression, and similarity of mutant phenotypes between mice and humans. Newly recognized developmental functions for mouse Chd7 are shedding light on how abnormalities in CHD7 might lead to CS symptoms in humans. Here we review known human inner ear phenotypes associated with CHD7 pathogenic variants and CS, summarize progress toward diagnosis and treatment of inner ear-related pathologies, and explore new avenues for treatment based on basic science discoveries.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.