SOX10基因突变对Waardenburg综合征患者内耳发育的影响  

SOX10 mutation is relevant to inner ear malformation in patients with Waardenburg syndrome

作　　者：徐广雨[1] 郝青青[1] 钟玲玲[1,2] 任巍[1] 闫艳[1] 刘日渊[1] 李佳楠[1] 郭维维[1] 赵辉[1] 杨仕明[1] 

机构地区：[1]解放军总医院耳鼻咽喉头颈外科,北京100853 [2]南开大学医学院临床医学系,天津300071

出　　处：《中华耳鼻咽喉头颈外科杂志》2016年第11期832-837,共6页Chinese Journal of Otorhinolaryngology Head and Neck Surgery

摘　　要：目的 通过对SOX10基因突变Waardenburg综合征（Waardenburg syndrome,WS）患者的内耳影像学分析和分子遗传学分析,研究SOX10基因突变与WS患者发生内耳畸形的相关性.方法 收集2001-2015年解放军总医院耳鼻咽喉头颈外科收治的WS患者36例的临床资料.通过颞骨高分辨率CT、头颅MRI、内听道磁共振水成像等影像学检查,全面评估每位患者内耳发育情况.并对每位患者筛查WS常见致病基因SOX10、MITF、PAX3的突变情况.按SOX10基因是否突变分为2组,以Fisher精确检验法比较两组间内耳畸形发生率的差异.结果 36例WS患者中,共发现12例内耳畸形（33.3％）,其中后半规管畸形发生率最高（12例）,可合并前庭扩大及耳蜗畸形.36例患者中9例检出SOX10基因杂合突变,其中6例出现双侧内耳畸形.36例患者中27例无SOX10基因突变,其中6例出现双侧内耳畸形.Fisher精确检验法比较SOX10基因突变组与非SOX10基因突变组间内耳畸形发生率差异有统计学意义（P =0.036）.结论 WS患者中如为SOX10基因突变,则出现内耳畸形的可能性较大,并且趋向于双侧耳蜗、前庭及半规管同时畸形.Objective To determine the relevance between the SOX10 mutation and Waardenburg syndrome （WS） accompanied with inner ear abnormality by analyzing the inner ear imaging results and molecular and genetic results of the WS patients with the SOX10 mutation.Methods This study included 36 WS in patients during 2001 and 2015 in the department of otorhinolaryngology head and neck surgery,Chinese Peoples＇s Liberation Army General Hospital.The condition of the inner ear of each patient was assessed by analyzing HRCT scans of the temporal bone and MRI scans of the brain and internal auditory canal.Meanwhile,the possible pathogenic genes of WS,including SOX10,MITF,and PAX3,were also screened.Patients were divided into two groups according to SOX10 mutation.The Fisher accuracy test was used to determine statistical difference of inner ear deformation incidence between the two groups.Results Among all 36 patients,12 were found to have inner ear abnormality.Most abnormalities were posterior semicircular canal deformations,some accompanied with cochlear deformation and an enlarged vestibule.Among all patients,9 patients were SOX10 heterozygous mutation carriers,among which six showed bilateral inner ear abnormality.Fisher accuracy test results suggested a significant correlation between the SOX10 mutation and inner ear abnormality in WS patients （P =0.036）.Conclusion This study found that WS patients with the SOX10 mutation are more likely to have deformed inner ears when compared to WS patients without the SOX10 mutation.

关 键 词：基因 WAARDENBURG综合征 耳 内 畸形 

分 类 号：R764.7[医药卫生—耳鼻咽喉科]