Waardenburg Syndrome (WS) is a condition characterized by sensorineural deafness and pigment disturbances of the skin, hair and iris. By using the latest genomics technology, the WS-related gene mutations and corresponding mechanisms have been widely studied and reported. and the high genetic heterogeneity of the disease has also been explained. However, the SOX10 gene transcription and expression has still be unclear. In this study, we determined the phenotypic gene expression of WS patients in two Chinese WS families. More importantly, we identified two novel SOX10 mutations, c.482-487del (p.R161-M162del)and c.52G > T (p.E18X) in WSII for the first time in the Chinese population.
基金：
Science and Technology Project of Hebei Province [1427781D]; Science and Technology Research and Development Program of Handan [1223108085]
第一作者机构：[1]Handan Cent Hosp, Dept Clin Lab, Bldg 59,CongTai North Rd, Handan 056001, Hebei, Peoples R China
共同第一作者：
通讯作者：
通讯机构：[1]Handan Cent Hosp, Dept Clin Lab, Bldg 59,CongTai North Rd, Handan 056001, Hebei, Peoples R China[*1]Department of Clinical Laboratory, Handan Central Hospital, Building No 59, CongTai North Road, CongTai District, Handan, Hebei,056001, PR China
推荐引用方式(GB/T 7714)：
Chen Dingli,Li Shouxia,Li Shurui,et al.Novel mutations of SOX10 gene in Chinese patients with type II Waardenburg syndrome[J].INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY.2020,136:doi:10.1016/j.ijporl.2020.110172.
APA：
Chen, Dingli,Li, Shouxia,Li, Shurui,Song, Xuedong,Guo, Lili...&Zhao, Subin.(2020).Novel mutations of SOX10 gene in Chinese patients with type II Waardenburg syndrome.INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY,136,
MLA：
Chen, Dingli,et al."Novel mutations of SOX10 gene in Chinese patients with type II Waardenburg syndrome".INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY 136.(2020)
