Article
A humanized murine model, demonstrating dominant progressive hearing loss caused by a novel KCNQ4 mutation (p.G228D) from a large Chinese family.
Clinical genetics - 1 Aug 2022
Cui Chong, Zhang Luping, Qian Fuping, Chen Yuxin, Huang Bowei, Wang Fang, Wang Daqi, Lv Jun, Wang Xuechun, Yan Zhiqiang, Guo Luo, Li Geng-Lin, Shu Yilai, Liu Dong, Li Huawei
Abstract excerpt
The pathogenic variants in KCNQ4 cause DFNA2 nonsyndromic hearing loss. However, the understanding of genotype-phenotype correlations between KCNQ4 and hearing is limited. Here, we identified a novel KCNQ4 mutation p.G228D from a Chinese family, including heterozygotes characterized by high-frequency hearing loss that is progressive across all frequencies and homozygotes with more severe hearing loss. We...
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