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Both hearing and balance are commonly affected in individuals with CHARGE syndrome (CS), an autosomal dominant condition caused by heterozygous pathogenic variants in the <jats:italic>CHD7<\/jats:italic> 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 <jats:italic>CHD7<\/jats:italic> 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 <jats:italic>CHD7<\/jats:italic> and CS are to (a) improve our understanding of the pathology caused by <jats:italic>CHD7<\/jats:italic> 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 <jats:italic>Chd7<\/jats:italic> function in the ear, given the evolutionary conservation of ear structure, function, <jats:italic>Chd7<\/jats:italic> expression, and similarity of mutant phenotypes between mice and humans. Newly recognized developmental functions for mouse <jats:italic>Chd7<\/jats:italic> are shedding light on how abnormalities in <jats:italic>CHD7<\/jats:italic> might lead to CS symptoms in humans. Here we review known human inner ear phenotypes associated with <jats:italic>CHD7<\/jats:italic> pathogenic variants and CS, summarize progress toward diagnosis and treatment of inner ear\u2010related pathologies, and explore new avenues for treatment based on basic science discoveries.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.c.31587","type":"journal-article","created":{"date-parts":[[2017,10,30]],"date-time":"2017-10-30T07:42:53Z","timestamp":1509349373000},"page":"439-449","source":"Crossref","is-referenced-by-count":23,"title":["Inner ear manifestations in CHARGE: Abnormalities, treatments, animal models, and progress toward treatments in auditory and vestibular structures"],"prefix":"10.1002","volume":"175","author":[{"given":"Daniel I.","family":"Choo","sequence":"first","affiliation":[{"name":"Department of Otolaryngology\u2014Head and Neck Surgery University of Cincinnati College of Medicine Cincinnati 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