Article
Phosphatidylinositol 4-kinase β mutations cause nonsyndromic sensorineural deafness and inner ear malformation.
Journal of genetics and genomics = Yi chuan xue bao - 20 Oct 2020
Su Xiulan, Feng Yufei, Rahman Sofia A, Wu Shuilong, Li Guoan, Rüschendorf Franz, Zhao Lei, Cui Hongwei, Liang Junqing, Fang Liang, Hu Hao, Froehler Sebastian, Yu Yong, Patone Giannino, Hummel Oliver, Chen Qinghua, Raile Klemens, Luft Friedrich C, Bähring Sylvia, Hussain Khalid, Chen Wei, Zhang Jingjing, Gong Maolian
Abstract excerpt
Congenital hearing loss is a common disorder worldwide. Heterogeneous gene variation accounts for approximately 20-25% of such patients. We investigated a five-generation Chinese family with autosomal-dominant nonsyndromic sensorineural hearing loss (SNHL). No wave was detected in the pure-tone audiometry, and the auditory brainstem response was absent in all patients. Computed tomography of the patients, as well...
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