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Progression of KCNQ4 related genetic hearing loss:a narrative review

Journal of Bio-X Research 2021年第4期4卷 151-157页

作者： Xiaolong Zhang Hongyang Wang Qiuju Wang College of Otolaryngology-Head and Neck Surgery Department of Audio-Vestibular MedicineChinese PLA Institute of OtolaryngologyChinese PLAGeneral HospitalMedical School of Chinese PLA National Clinical Research Center for Otolaryngologic Diseases Chinese PLA General HospitalBeijingChina

KCNQ4 gene mutation can lead to deafness non-syndromic autosomal dominant 2A,which is a type of autosomal dominant non-syndromic hearing *** non-syndromic autosomal dominant 2A patients with KCNQ4 gene mutation usually present with symmetrical,delayed,progressive high-frequency-affected hearing loss,which eventually can involve all *** this article,we comprehensively reviewed the research on the role and function of KCNQ4 gene in genetic hearing *** discussed the pathological and physiological mechanisms of KCNQ4 gene and the related clinical phenotypes of KCNQ4 gene *** also reviewed the latest developments in the treatment of KCNQ4 gene mutation-related genetic hearing loss,including selective potassium channel activation drugs and gene therapy.

关键词： deafness non-syndromic autosomal dominant 2A genetic hearing loss gene mutation KCNQ4 potassium channel

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Journal of Bio-X Research 2021年第4期4卷 145-150页

作者： Honglan Zheng Wanning Cui Zhiqiang Yan Institute of Molecular Physiology Shenzhen Bay LaboratoryShenzhenGuangdong Province State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science Institutes of Brain ScienceSchool of Life SciencesFudan UniversityShanghaiChina

Sensorineural hearing loss is the most common sensory deficit in humans,with an estimated prevalence of 1 in 500 *** half of childhood hearing loss is attributed to genetic factors and can be classified as syndromic or non-syndromic based on the inheritance *** ion channel genesKCNQ1,KCNE1,KCNQ4,P2RX2,TMC1,KCNJ10,andCACNA1D have frequently been associated with genetic hearing *** of the important roles these genes play in cochlear hair cell function and the auditory pathways,mutations in these genes that result in impaired ion channel function can lead to hereditary hearing *** main purpose of this review was to examine the latest research progress on the functional roles,inheritance pattern,gene expression,protein structure,clinical phenotypes,mouse models,and possible treatments of the most commonly studied ion channels associated with inherited deafness.A comprehensive summary could help highlight ion channels that should be investigated as potential drug targets for the treatment of inherited deafness.

关键词： channelopathies gene mutation genetic hearing loss ion channel therapy

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Future directions for screening and treatment in congenital hearing loss

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Precision Clinical Medicine 2020年第3期3卷 175-186页

作者： Ryan K.Thorpe Richard J.H.Smith Molecular Otolaryngology and Renal Research Laboratories Carver College of MedicineUniversity of Iowa375 Newton RdIowa CityIA 52242USA Department of Otolaryngology–Head and Neck Surgery University of Iowa200 Hawkins DrIowa CityIA 52242USA The Interdisciplinary Graduate Program in genetics University of Iowa375 Newton RdIowa CityIA 52242USA Iowa Institute of Human genetics University of Iowa375 Newton RdIowa CityIA 52242USA

hearing loss is the most common neurosensory *** results froma variety of heritable and acquired causes and is linked to multiple deleterious effects on a child’s development that can be ameliorated by prompt identification and individualized *** hearing loss in newborns is challenging,especially in mild or progressive cases,and its management requires a multidisciplinary team of healthcare providers comprising audiologists,pediatricians,otolaryngologists,and genetic *** physiologic newborn hearing screening has resulted in earlier diagnosis of hearing loss than ever before,a growing body of knowledge supports the concurrent implementation of genetic and cytomegalovirus testing to offset the limitations inherent to a singular screening *** this review,we discuss the contemporary role of screening for hearing loss in newborns as well as future directions in its diagnosis and treatment.

关键词： genetic hearing loss deafness cytomegalovirus newborn screening precision medicine

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