中国 II 型 Waardenburg 综合征患者 SOX10 基因突变的研究
Novel mutations of SOX10 gene in Chinese patients with type II Waardenburg syndrome.
机构信息
Department of Clinical Laboratory, Handan Central Hospital, Handan, Hebei, 056001, PR China.
Department of Clinical Laboratory, Handan Central Hospital, Handan, Hebei, 056001, PR China.
出版信息
Int J Pediatr Otorhinolaryngol. 2020 Sep;136:110172. doi: 10.1016/j.ijporl.2020.110172. Epub 2020 Jun 11.
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.
瓦登伯格综合征（WS）是一种以感觉神经性耳聋和皮肤、毛发和虹膜色素紊乱为特征的疾病。通过使用最新的基因组学技术，广泛研究和报道了与 WS 相关的基因突变及其相应的机制，并解释了疾病的高度遗传异质性。然而，SOX10 基因的转录和表达仍不清楚。在这项研究中，我们确定了两个中国 WS 家系患者的表型基因表达。更重要的是，我们首次在中国人中发现了两个新的 SOX10 突变 c.482-487del（p.R161-M162del）和 c.52G>T（p.E18X），分别在 WSII 中。
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