Skewed X-chromosome inactivation and next-generation sequencing to identify a novel SMPX variants associated with X-linked hearing loss in a Chinese family

Hereditary nonsyndromic hearing loss is extremely heterogeneous and an X-linked form accounts for 1 ∼5% of all cases. The aim of this study was to identify the pathogenic variants in a nonsyndromic X-linked dominant hearing loss family, and explain the reason of different hearing phenotype in hearing between the two sisters with the same variant.

Source: International Journal of Pediatric Otorhinolaryngology - July 17, 2018 Category: ENT & OMF Authors: Song Gao, Yi Jiang, Guojian Wang, Yongyi Yuan, Shasha Huang, Xue Gao, Xiaohong Li, Dejun Zhang, Jian Wu, Xiaowen Ji, Tao Deng, Ligang Wang, Dongyang Kang, Pu Dai Source Type: research