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

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

机译：SLC44A4突变导致常染色体显性遗传性遗传性缺陷非综合征中频听力损失

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Clinical, genetic, and functional investigations were performed to identify the causative mutation in a distinctive Chinese family with postlingual non-syndromic mid-frequency sensorineural hearing loss. Whole-exome sequencing revealed SLC44A4, which encodes the choline transport protein, as the pathogenic gene in this family. In the zebrafish model, downregulation of slc44a4 using morpholinos led to significant abnormalities in the zebrafish inner ear and lateral line neuromasts and contributed, to some extent, to disabilities in hearing and balance. SH-SY5Y cells transfected with SLC44A4 showed higher choline uptake and acetylcholine release than that of cells transfected with mutant SLC44A4. We concluded that mutation of SLC44A4 may cause defects in the Choline-acetylcholine system, which is crucial to the efferent innervation of hair cells in the olivocochlear bundle for the maintenance of physiological function of outer hair cells and the protection of hair cells from acoustic injury, leading to hearing loss.

机译：进行临床，遗传和功能调查，以鉴定具有临床中的致病性突变，具有后期非综合征中频传感器听力损失。全末端测序揭示了编码胆碱转运蛋白的SLC44A4，作为该家庭的病原基因。在斑马鱼模型中，使用吗啉醇的SLC44A4的下调导致斑马鱼内耳和侧线神经孢子中的显着异常，并在一定程度上贡献了听力和平衡的残疾。用SLC44A4转染的SH-SY5Y细胞显示出更高的胆碱摄取和乙酰胆碱释放，而不是用突变体SLC44a4转染的细胞的丙酮释放。我们得出结论，SLC44A4的突变可能导致胆碱 - 乙酰胆碱系统中的缺陷，这对于奥利粒细胞束中的毛细胞的散发性支配至关重要，用于维持外毛细胞的生理功能和从声损伤保护毛细胞，导致听力损失。

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来源
《Human Molecular Genetics》 |2017年第2期|共12页
作者
Ma Zhaoxin; Xia Wenjun; Liu Fei; Ma Jing; Sun Shaoyang; Zhang Jin; Jiang Nan; Wang Xu; Hu Jiongjiong; Ma Duan;
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作者单位

Tongji Univ Shanghai East Hosp Dept Otorhinolaryngol Shanghai 200120 Peoples R China;

Fudan Univ Inst Biomed Sci Shanghai 200032 Peoples R China;

Fudan Univ Sch Basic Med Sci Key Lab Metab &

Mol Med Collaborat Innovat Ctr Genet &

Dev Minist;

Fudan Univ Sch Basic Med Sci Key Lab Metab &

Mol Med Collaborat Innovat Ctr Genet &

Dev Minist;

Fudan Univ Sch Basic Med Sci Key Lab Metab &

Mol Med Collaborat Innovat Ctr Genet &

Dev Minist;

Fudan Univ Sch Basic Med Sci Key Lab Metab &

Mol Med Collaborat Innovat Ctr Genet &

Dev Minist;

Fudan Univ Sch Basic Med Sci Key Lab Metab &

Mol Med Collaborat Innovat Ctr Genet &

Dev Minist;

Fudan Univ Sch Basic Med Sci Key Lab Metab &

Mol Med Collaborat Innovat Ctr Genet &

Dev Minist;

Tongji Univ Shanghai East Hosp Dept Otorhinolaryngol Shanghai 200120 Peoples R China;

Fudan Univ Inst Biomed Sci Shanghai 200032 Peoples R China;

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正文语种 eng
中图分类医学遗传学;
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1. 线粒体功能障碍相关遗传性非综合征型听力损失的研究进展 [J] . 赵晶晶, 汪琪璇, 蔺欣, 中华耳科学杂志（英文版） . 2018,第002期
2. SLC44A4 mutation causes autosomal dominant hereditary postlingual non-syndromic mid-frequency hearing loss [J] . ZhaoxinMa, WenjunXia, FeiLiu, Human Molecular Genetics . 2017,第16期

机译：SLC44A4突变导致常染色体显性遗传性遗传性缺陷非综合征中频听力损失
3. The effect of novel mutations on the structure and enzymatic activity of unconventional myosins associated with autosomal dominant non-syndromic hearing loss [J] . Tae-Jun Kwon, Se-Kyung Oh, Hong-Joon Park, Open Biology . 2014,第7期

机译：新突变对与常染色体显性非综合征性听力损失相关的非常规肌球蛋白的结构和酶活性的影响
4. Genotype-phenotype correlation for DFNA22: characterization of non-syndromic, autosomal dominant, progressive sensorineural hearing loss due to MYO6 mutations. [J] . Topsakal V, Hilgert N, van Dinther J, Audiology & neuro-otology . 2010,第4期

机译：DFNA22的基因型与表型的相关性：由于MYO6突变导致的非综合征，常染色体显性遗传，进行性感觉神经性听力丧失的特征。
5. DEFECTS IN THE ATP2B2 GENE CAUSING HEREDITARY HEARING AND BALANCE LOSS IN MICE AND HUMANS:A BIOPHYSICAL STUDY OF NORMAL AND MUTATED PMCA2 PUMP FUNCTION [C] . MARIO BORTOLOZZI NATO Advanced Study Institute on Biophotonics: Spectroscopy, Imaging, Sensing, and Manipulation . 2011

机译：ATP2B2基因的缺陷导致遗传性听力和小鼠和人类的失利：正常和突变PMCA2泵功能的生物物理研究
6. Non-syndromic hereditary hearing loss. [D] . Markowitz, Linda Carol. 2002

机译：非综合征性遗传性听力损失。
7. The effect of novel mutations on the structure and enzymatic activity of unconventional myosins associated with autosomal dominant non-syndromic hearing loss [O] . Tae-Jun Kwon, Se-Kyung Oh, Hong-Joon Park, 2014

机译：新突变对与常染色体显性非综合征性听力损失相关的非常规肌球蛋白的结构和酶活性的影响
8. SLC44A4 mutation causes autosomal dominant hereditary postlingual non-syndromic mid-frequency hearing loss [O] . Zhaoxin Ma, Wenjun Xia, Fei Liu, 2017

机译：SLC44A4突变导致常染色体显性遗传性遗传性交非综合征中频听力损失

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

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