|
|
|
| 非综合征性耳聋一家系TECTA基因突变分析 |
| 张翠荣1, 李守霞1, 李书瑞1, 陈丁莉1, 郭祥瑞2, 陈永学1, 刘子甲3, 张瑞敏1, 宋学东1 |
1.河北省邯郸市中心医院, 河北 邯郸 056008
2.山东第一医科大学附属省立医院, 山东 济南 250021
3.上海交通大学电子信息与电气工程学院, 上海 201100 |
|
| 引用本文: |
|
张翠荣, 李守霞, 李书瑞, 陈丁莉, 郭祥瑞, 陈永学, 刘子甲, 张瑞敏, 宋学东. 非综合征性耳聋一家系TECTA基因突变分析[J]. 河北医学, 2022, 28(6): 1054-1056.
|
|
|
|
| 链接本文: |
| http://www.hbyxzzs.cn/CN/10.3969/j.issn.1006-6233.2022.06.039 或 http://www.hbyxzzs.cn/CN/Y2022/V28/I6/1054 |
[1] Cunningham LL,Tucci DL.Hearing Loss in Adults[J].N Engl Med,2017,377(25):2465-2473.
[2] Morton CC,Nance WE.Newborn hearing screening a silent revolution[J].N Engl Med,2006,354(20):2154-2164.
[3] 张秋韵,刘云亮,毛竹,等.11684例新生儿听力及耳聋基因联合筛查结果分析[J].中华耳科学杂志,2021,19(3):457-461.
[4] Dai P,Li Q,Huang D,et al.SLC26A4 c.919-2A>G varies among Chinese ethnic groups as a hearing loss[J].Genet Med,2008,10(8):586-592.
[5] 曹骞匀,高建莉.TECTA基因与听力损失相关疾病的研究进展[J].中国听力语言康复科学杂志,2021,19(6):435-442.
[6] Xia W,Liu F,Ma D.Research progress in pathogenic genes of hereditary non-syndromic mid- frequency deafness[J].Front Med,2016,10(2):137-142.
[7] Kim A,Chang MY,Koo JW,et al.Novel TECTA mutations identified in stable sensorineural hearing loss and their clinical implications[J].Audiol Neurootol,215,20(1):17-25.
[8] Choi BY,Kim J,Chung J,et al.Whole-exome sequencing identifies a novel genotype-phenotype correlation in the entactin domain of the known deafness gene TECTA[J].PLOS One,2014,9(5):97040.
[8] Hildebrand MS,Morin M,Meycr NC,et a1.DFNA8/12 caused by TECTA mutations is the most identified subtype of non-syndromic autosomal dominant hearing loss[J]Hum Mutat,2011,32(7):825-834.
[9] Su Y,Tang WX,Gao X,et al.A novel mutation in the TECTA gene in a Chinese family with autosomal dominant nonsyndromic hearing loss[J].PLOS One,2014,9(2):e89240.
[10] 周赤燕,李素萍,宋勤浩,等.耳聋患儿的TECTA基因突变分析[J].中华医学遗传学杂志,2019,36(2):147-150.
[11] Li Z,Guo Y,Lu Y,et al.Identification of a novel TECTA mutation in a Chinese DFNA8/12 family with prelingual progressive sensorineural hearing impairment[J].PLOS One,2013,8(7):70134. |
|
|
|
2022, Vol. 28 
冀公网安备13080202000677号