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Frontiers of Medicine

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Front. Med.    2016, Vol. 10 Issue (2) : 137-142    https://doi.org/10.1007/s11684-016-0449-8
REVIEW
Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness
Wenjun Xia1,Fei Liu2,Duan Ma1,2,*()
1. Institute of Biomedical Sciences, Fudan University, Shanghai 200023, China
2. 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
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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 mid-frequency 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.
Keywords hereditary non-syndromic hearing loss      mid-frequency hearing loss      deafness genes     
Corresponding Author(s): Duan Ma   
Just Accepted Date: 14 April 2016   Online First Date: 03 May 2016    Issue Date: 27 May 2016
 Cite this article:   
Wenjun Xia,Fei Liu,Duan Ma. Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness[J]. Front. Med., 2016, 10(2): 137-142.
 URL:  
https://academic.hep.com.cn/fmd/EN/10.1007/s11684-016-0449-8
https://academic.hep.com.cn/fmd/EN/Y2016/V10/I2/137
Gene Location Length Protein location in Corti Function Nucleotide mutation Phenotype References
TECTA 11q22–24 90 321 bp Tectorial membrane Components of the tectorial membrane c.950T>A, c.2657A>G, c.3169T>A, c.3293C>T, c.3406G>C, c.3743C>T, c.3995G>T, c.4525T>G, c.4549T>C, c.4856G>C, c.5383+ 5delGTGA, c.6026T>C High frequency hearing loss [13,14,16,21,22,41]
c.1084A>T, c.1124delT, c.1395T>G, c.1685C>T, c.2444C>T, c.3107G>A, c.5331G>A, c.5372C>G, c.5383+ 2T>G, c.5458C>T, c.5471G>A, c.5509T>G, c.5509T>C, c.5597C>T, c.5600A>G, c.5609A>G, c.5618C>T, c.5668C>T, c.5692T>C, c.5839C>T, c.6062G>A Mid frequency hearing loss [11,14,16,18,42–45]
EYA4 6q23 291 523 bp Unknown Associated with composition of Corti c.1759C>T, c.1114_1117dupTTTG, c.1048_1049dupAA, c.T1301A, c.724_8047dupAA DFNA10 hearing loss plus dilated cardiomyopathy [46–48]
C.1026_1027dupAA, c.511G>C DFNA10 hearing loss [49]
COL11A2 6p21.32 29 819 bp Tectorial membrane Maintaining the interfibrillar spacing and fibril diameter of type II collagen 732delC, 2492C>A, 2406_2409del, 2405_2410ins9bp, 3991C>T, 4821_4843del, 1636C>T and IVS22-2A>G, 3032_3033insC and 4750G>T, 1982G>A Oto-spondylo-megaepiphyseal dysplasia [50–53]
? 3991C>T and IVS53+ 5G>A Non-syndromic cleft palate [53]
? 529C>CT, 2775_2801del 4135C>CT, IVS60-1G>GA Non-ocular Stickler [52,54,55]
? 1861C>A, 2423G>GA, 3100C>CT Non-syndromic hearing loss [30,52]
? 4322G>GA WZS/non-ocular Stickler [56]
CCDC50 69 594 bp Unknown Expressed in inner ear c.1394_1401dup CACGGCAT Non-syndromic hearing loss [40]
Tab.1  Summary of functions and mutations in TECTA, EYA4, COL11A2, and CCDC50
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