Enlarged vestibular aqueduct(EVA)is a radiologic malformation of the inner ear most commonly seen in children with sensorineural hearing loss.Most cases of EVA with hearing loss are caused by biallelic mutations of SL...Enlarged vestibular aqueduct(EVA)is a radiologic malformation of the inner ear most commonly seen in children with sensorineural hearing loss.Most cases of EVA with hearing loss are caused by biallelic mutations of SLC26A4.In this review,we discuss the potential mechanisms underlying the pathogenesis of hearing loss with EVA due to malfunction of SLC26A4,the detection rates of SLC26A4 mutations in EVA patients from different populations,and the role of other genetic factors(eg,mutations in FOXI1 and KCNJ10)as etiologic contributors to EVA.Elucidating the molecular etiology of EVA-associated hearing loss may facilitate genetic counseling and lead to potential therapeutic strategies.展开更多
文摘Enlarged vestibular aqueduct(EVA)is a radiologic malformation of the inner ear most commonly seen in children with sensorineural hearing loss.Most cases of EVA with hearing loss are caused by biallelic mutations of SLC26A4.In this review,we discuss the potential mechanisms underlying the pathogenesis of hearing loss with EVA due to malfunction of SLC26A4,the detection rates of SLC26A4 mutations in EVA patients from different populations,and the role of other genetic factors(eg,mutations in FOXI1 and KCNJ10)as etiologic contributors to EVA.Elucidating the molecular etiology of EVA-associated hearing loss may facilitate genetic counseling and lead to potential therapeutic strategies.
