title: Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness.
abstract: Hearing impairment is considered as the most prevalent impairment worldwide. Almost 600 million people in the world suffer from mild or moderate hearing impairment, an estimated 10% of the human population. Genetic factors play an important role in the pathogenesis of this disorder. Hereditary hearing loss is divided into syndromic hearing loss (associated with other anomalies) and non-syndromic hearing loss (not associated with other anomalies). Approximately 80% of genetic deafness is non-syndromic. On the basis of the frequency of hearing loss, hereditary non-syndromic hearing loss can be divided into high-, mid-, low-, and total-frequency hearing loss. An audiometric finding of mid-frequency sensorineural hearing loss, or a "bowl-shaped" audiogram, is uncommon. Up to now, merely 7 loci have been linked to mid-frequency hearing loss. Only four genetic midfrequency deafness genes, namely, DFNA10 (EYA4), DFNA8/12 (TECTA), DFNA13 (COL11A2), DFNA44 (CCDC50), have been reported to date. This review summarizes the research progress of the four genes to draw attention to mid-frequency deafness genes.
authors.affiliation: Institute of Biomedical Sciences, Fudan University, Shanghai, 200023, China.
authors.forename: Wenjun
authors.initials: W
authors.lastname: Xia
authors.affiliation: Key Laboratory of Metabolism and Molecular Medicine, Ministry of Education, Department of Biochemistry and Molecular Biology, Institute of Biomedical Sciences, School of Basic Medical Sciences, Fudan University, Shanghai, 200023, China.
authors.forename: Fei
authors.initials: F
authors.lastname: Liu
authors.affiliation: Institute of Biomedical Sciences, Fudan University, Shanghai, 200023, China. duanma@fudan.edu.cn.|Key Laboratory of Metabolism and Molecular Medicine, Ministry of Education, Department of Biochemistry and Molecular Biology, Institute of Biomedical Sciences, School of Basic Medical Sciences, Fudan University, Shanghai, 200023, China. duanma@fudan.edu.cn.
authors.forename: Duan
authors.initials: D
authors.lastname: Ma
mesh_terms: D024161:Collagen Type XI / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D058851:GPI-Linked Proteins / Q000235:genetics; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D015534:Trans-Activators / Q000235:genetics*
chemical_list: C478972:CCDC50 protein, human; C499319:COL11A2 protein, human; D024161:Collagen Type XI; C117736:EYA4 protein, human; D016326:Extracellular Matrix Proteins; D058851:GPI-Linked Proteins; D047908:Intracellular Signaling Peptides and Proteins; C491350:TECTA protein, human; D015534:Trans-Activators
keywords: deafness genes; hereditary non-syndromic hearing loss; mid-frequency hearing loss