Phosphatidylinositol 4-kinase β mutations cause nonsyndromic sensorineural deafness and inner ear malformation

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 audi...

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Veröffentlicht in:	Journal of genetics and genomics 2020-10, Vol.47 (10), p.618-626
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Congenital sensorineural hearing loss Inner ear malformation Mutations Phosphatidylinositol 4-kinase β Zebrafish
Online-Zugang:	Volltext
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