GJB2、SLC26A4基因相关耳聋儿童的听力损失特点分析  

Audiological Characteristics in 832 Deaf Children with Biallelic Causative Mutations in GJB2,SLC26A4 Gene

作　　者：崔庆佳[1] 王国建[2] 张媛[1] 杨影[3,4] 康东洋[2] 杜延顺[1] 赵丽萍[1] 黄莎莎[2] 张伟 孙喜斌[3] 戴朴[2] 黄丽辉[1] 

机构地区：[1]首都医科大学附属北京同仁医院北京市耳鼻咽喉科研究所耳鼻咽喉头颈外科学教育部重点实验室首都医科大学,北京100005 [2]中国人民解放军总医院耳鼻咽喉头颈外科 [3]中国聋儿康复研究中心 [4]言语听觉科学教育部重点实验室

出　　处：《听力学及言语疾病杂志》2014年第2期120-123,共4页Journal of Audiology and Speech Pathology

基　　金：卫生公益性行业科研专项基金(201202005);首都医学发展科研基金项目(2009-1049);首都医科大学基础临床合作基金(12JL07);首都临床特色应用研究专项基金(Z131107002213123);国家自然科学基金青年基金(81000415);北京市科技新星计划(2010B081)联合资助

摘　　要：目的探讨明确为GJB2、SLC26A4基因相关耳聋儿童的听力损失特点。方法研究对象为832例O～12岁发病、经基因芯片检测明确诊断为GJB2或SLC26A4基因突变相关耳聋的患儿，其中GJB2基因纯合突变和复合杂合突变553例、sLc26A4基因纯合突变和复合杂合突变279例。按耳聋发病年龄分为婴儿期（〈1岁）、幼儿期（1～3岁）、学龄前期（3～6岁）和学龄期（6～12岁），分析比较G．IB2、SLC26A4基因突变耳聋儿童的发病年龄分布及听力损失特点。结果①婴儿期GJB2和SLC26A4基因突变的发病年龄构成比分别为37．97％（210／553）及25．45％（71／279），幼儿期分别为38．34％（212／553）及44．80％（125／279），学龄前期分别为16．27％（90／553）及20．07％（56／279），学龄期分别为7．41％（41／553）及9．67％（27／279），两者发病年龄构成比差异有统计学意义（P=0．001）。②GJB2基因突变耳聋儿童中，婴儿期、幼儿期、学龄前期、学龄期极重度听力损失构成比分别为66．67％（140／210）、61．32％（130／212）、47．78％（43／90）、41．46％（17／41），随发病年龄增大，极重度听力损失比例逐渐减少（P=0．004）。③sLC26A4基因突变耳聋儿童中，各发病年龄组听力损失程度构成比的差异无统计学意义（P=0．083）。结论本组O～12岁发病的GJB2及SLC26A4基因突变相关耳聋儿童发病年龄主要集中在婴儿及幼儿期，均以极重度听力损失为主，且发病年龄越小，极重度听力损失比例越高。Objective To determine the audiological characteristics in 832 deaf children with biallelic causative mutations in GJB2,SLC26A4 gene. Methods The 832 patients received deafness gene screening, 553 were GJB2 gene hial[elic causative mutations, 279 were SLC26A4 gene bialle[ie causative mutations. Patients were divided into four groups according to ages of hearing loss onset：〈 1,1 - 3,3 - 6,6- 12 years old, and the audiological character- istics and prevalence of GJB2,SLC26A4 gene mutations at different ages of onset. Results The prevalence of GJB2gene mutations at four groups was 37.97%（210/553）,38.34% （212/553）, 16.27% （90/553）,7.41% （41/553）,re- spectively the prevalence of SLC26A4 gene mutations at four groups was 25.45% （71/279）, 44.80% （125/279）, 20.07% （56/279） ,9.67%（27/279） ,respectively. The difference between GJB2 and SLC26A4 gene was significant（P =0. 001）. The prevalence of profound hearing loss with GJB2 gene mutations at four groups were 66. 67% （140/ 210） ,61. 32% （130/212）, 47. 78% （43/90）, 41. 46% （17/41）, respectively. The difference was significant（P = 0. 004）,while the difference in 279 patients with SLC26A4 gene mutations was not statistically significant（P=0. 083）. Conclusion The age of hearing loss onset in patients with biallelic causative mutations in GJB2 or SLC26A4 gene refers to 0-3 years-old, hearing loss in patients with GJB2,SLC26A4 gene mutations gives priority to pro- found. The age of hearing loss onset is smaller,the ratio of profound hearing loss is higher. Patients with severe and profound hearing impairment should be performed the genetic testing when the aue of onset under 12.

关 键 词：基因 突变 儿童 听力损失 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]