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SLC44A4 mutation causes autosomal dominant hereditary postlingual non-syndromic mid-frequency hearing loss

Ma Zhaoxin  Xia Wenjun  Liu Fei  Ma Jing  Sun Shaoyang  Zhang Jin  Jiang Nan  Wang Xu  Hu Jiongjiong  Ma Duan  
【摘要】:Objective Hearing impairment is considered one of the most prevalent clinic disability worldwide. The variety of hearing impairment causative genes determines the diversity of pathogenic macha nism. Method In our studies, clinical and genetic investigation of of a novel Chinese family with postling ual non-syndromic mid-frequency sensorineural hearing loss(MFSNHL) was performed. The affe cted individuals in this family showed the stable onset of hearing loss(age 27–30 years) across g enerations. During all stages of the disease, the audiograms present typical "bowl-shaped" audio metric profile, which displays distinction with the reported families segregating MFSNHL. Site mut ations were not observed in several frequent candidate genes known to be causative of hearing l oss(GJB2, GJB3, SLC26 A4, and mitochondrial genes), and genes reported to be causative of M FSNHL, such as DFNA10(EYA4), DFNA8/12(TECTA), DFNA13(COL11 A2), DFNA44(CCDC50) were also ruled out by gene sequencing. Result Using the second generation sequencing, we identified choline transport protein encoding gene, SLC44 A4, as the deafness pathogenic candidate gene in this family. On the zebra fish mod el, Q-RT PCR and in situ hybridization indicated that slc44 a4 was widely expressed in inner ear a nd central nervous system. Morpholine down regulation of slc44 a4 led to reduction and malformation of hair cells in cochlea. SLC44 A4 transfected SH-SY5 Y cells showed increased choline uptak e, while mutant ones didn‘t. Conclusion We conclude that mutation of SLC44 A4 may cause defect of Choline-Ach system, w hich is crucial to the efferent innervation of the hair cells from the olivocochlear(OC) bundle in th e maintenance of physiological function of outer hair cells and the protection to hair cells from aco ustic injury, leading to hearing loss.

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