Article
Mutations of MAP1B encoding a microtubule-associated phosphoprotein cause sensorineural hearing loss.
JCI insight - 3 Dec 2020
Cui Limei, Zheng Jing, Zhao Qiong, Chen Jia-Rong, Liu Hanqing, Peng Guanghua, Wu Yue, Chen Chao, He Qiufen, Shi Haosong, Yin Shankai, Friedman Rick A, Chen Ye, Guan Min-Xin
Abstract excerpt
The pathophysiology underlying spiral ganglion cell defect-induced deafness remains elusive. Using the whole exome sequencing approach, in combination with functional assays and a mouse disease model, we identified the potentially novel deafness-causative MAP1B gene encoding a highly conserved microtubule-associated protein. Three novel heterozygous MAP1B mutations (c.4198A>G, p.1400S>G; c.2768T>C, p.923I>T;...
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