9755例新生儿听力与耳聋基因联合筛查结果分析
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摘要
目的探讨新生儿听力和耳聋基因联合筛查的临床意义。方法对2017年1月～2017年2月在北京市朝阳区助产机构分娩的9 755例新生儿进行听力和常见4个耳聋基因9个位点[GJB2(235delC、299delAT、176del16、35delG),SLC26A4(IVS7-2A>G、2168A>G),GJB3(538C>T)和线粒体12SrRNA(1555A>G、1494C>T)]联合筛查,听力筛查未通过或耳聋基因携带者在3月龄时进行听力学诊断。结果 9 755例新生儿中9 085例(93.13%,9 085/9 755)通过新生儿听力初筛;670例未通过听力初筛的新生儿中完成复筛509例(75.97%,509/670),其中436例(85.66%,436/509)通过复筛。9 755例新生儿中共检出耳聋基因突变427例,基因突变携带率为4.38%(427/9 755),GJB2、SLC26A4、GJB3和线粒体12SrRNA突变携带率分别为2.37%(231/9 755)、1.42%(139/9 755)、0.24%(23/9 755)和0.28%(27/9 755);复合杂合突变7例。9 085例通过听力筛查的新生儿中,耳聋基因突变携带者375例(4.13%),670例未通过初筛的新生儿中,耳聋基因突变携带者52例(7.76%),前者低于后者,差异有统计学意义(!2=19.68,P<0.001);未通过听力复筛的73例新生儿中16例携带耳聋基因突变。最终确诊听力损失13例,听力损失检出率1.33‰(13/9 755),除1例携带SLC26A4IVS7-2A> G杂合突变外,其余12例均通过了耳聋基因筛查。结论新生儿听力和耳聋基因联合筛查可以弥补单纯听力筛查的不足,是早期发现、早期诊断听力损失儿童或检出有潜在听力损失高危因素儿童理想可靠的筛查策略。
Objective To explore the clinical significance of combined screening of hearing and deafness genes.Methods A total of 9 755 newborns born in Chaoyang District,Beijing between January and February 2017 received combined hearing and deafness gene screenings.Diagnostic audiology was performed on newborns who failed earing screening twice or carried deafness gene mutations three months later.Results A total of 9 085 of 9 755 cases passed the first hearing screening and the passing rate was 93.13%;509 of 670 cases returned for rescreening after failing the first one,and 436 newborns passed the second screening.A total of 427 cases carried mutations among the 9 755 newborns and the carrier rate was 4.38%the carrier rate of GJB2,SLC26A4,GJB3 and 12SrRNA were 2.37%,1.42%,0.24% and 0.28%,respectively.In 9 085 newborns who passed the hearing screening,375 carried mutations and the carrier rate was 4.13%;in 670 newborns who failed the hearing screening,52 carried mutations with a carrier rate of 7.76%.There were significantly statistic differences in the carrier rate between the newborns who passed and failed the hearing screening(P<0.001).Further more 73 cases failed the second screening and 16 cases carried deafness gene mutation.Finally,13 cases were diagnosed with hearing loss.Conclusion The combined hearing and genetic screenings are feasible and easy to be adopted in clinical practice,considered as one of the reliable screening strategies for early detection,early diagnosis of hearing loss,or potentially high-risk hearing loss in children.
Objective To explore the clinical significance of combined screening of hearing and deafness genes.Methods A total of 9 755 newborns born in Chaoyang District,Beijing between January and February 2017 received combined hearing and deafness gene screenings.Diagnostic audiology was performed on newborns who failed earing screening twice or carried deafness gene mutations three months later.Results A total of 9 085 of 9 755 cases passed the first hearing screening and the passing rate was 93.13%;509 of 670 cases returned for rescreening after failing the first one,and 436 newborns passed the second screening.A total of 427 cases carried mutations among the 9 755 newborns and the carrier rate was 4.38%the carrier rate of GJB2,SLC26A4,GJB3 and 12SrRNA were 2.37%,1.42%,0.24% and 0.28%,respectively.In 9 085 newborns who passed the hearing screening,375 carried mutations and the carrier rate was 4.13%;in 670 newborns who failed the hearing screening,52 carried mutations with a carrier rate of 7.76%.There were significantly statistic differences in the carrier rate between the newborns who passed and failed the hearing screening(P<0.001).Further more 73 cases failed the second screening and 16 cases carried deafness gene mutation.Finally,13 cases were diagnosed with hearing loss.Conclusion The combined hearing and genetic screenings are feasible and easy to be adopted in clinical practice,considered as one of the reliable screening strategies for early detection,early diagnosis of hearing loss,or potentially high-risk hearing loss in children.
引文
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11王辉兵,于飞,戴朴,等.GJB2结构功能及致病机制研究[J].中华耳科学杂志,2013,1:131.
12范文露,时雯雯,王必斌,等.浙江省1822例非综合征性感音神经性聋患者GJB2基因突变分析[J].临床耳鼻咽喉头颈外科杂志,2017,5:352.
13胡华梅,胡华,董艳玲,等.新生儿中常见的9个耳聋基因突变位点筛查分析[J].第三军医大学学报,2012,34:96.
14 Wu CM,Ko HC,Tsou YT,et al.Long-term cochlear implant outcomes in children with GJB2and SLC26A4 mutations[J].PLoS One,2015,10:e0138575.
15唐俊湘,孙玉秀,王朝红,等.2363例新生儿4个常见遗传性耳聋基因突变筛查结果分析[J].山东医药,2015,55:76.
16王秋菊.新生儿听力及基因联合筛查---中国模式与未来发展[J].临床耳鼻咽喉头颈外科杂志,2014,28:1733.
17要跟东,李守霞,张小芳,等.邯郸市特教学校耳聋患者SLC26A4基因突变分析[J].医学综述,2013,19:1669.
18王芳,刘星辰,郭玉芬.线粒体DNA突变与遗传性聋[J].听力学及言语疾病杂志,2016,24:405.
19潘拥军,蒋新液,卫雅蓉,等.新生儿听力筛查联合耳聋基因检测的应用[J].中国优生与遗传杂志,2015,23:66.
2 Xin F,Yuan Y,Deng X,et al.Genetic mutations in nonsyndromic deafness patients of Chinese minority and Han ethnicities in Yunnan,China[J].Journal of Translational Medicine,2013,11:312.
3 Moeton CC,Nance WE.Newborn hearing screening-a silent revolution[J].The New England Journal of Medicine,2006,354:2151.
4韩冰,王秋菊.新生儿听力和基因联合筛查研究现状[J].中华耳科学杂志,2013,11:309.
5陈鑫苹,徐卫华,符生苗,等.遗传性耳聋基因芯片检测的临床应用研究[J].现代预防医学,2012,39:170.
6 Lu Y,Dai D,Chen Z,et al.Molecular screening of patients with nonsyndromic hearing loss from Nanjing city of China[J].Journal of Biomedical Research,2011,25:309.
7 Wang QJ,Zhao YL,Rao SQ,et al.Newborn hearing concurrent gene screening can improve care for hearing loss:a study on 14913Chinese newborns[J].International Journal of Pediatric Otorhinolaryngology,2011,75:535.
8封纪珍,李素芳,李天洁,等.石家庄市新生儿听力及耳聋基因联合筛查结果分析[J].河北医科大学学报,2015,36:1271.
9姚聪,胡艳玲,周爱芬,等.武汉市部分新生儿耳聋基因与听力联合筛查结果分析[J].听力学及言语疾病杂志,2018,26:5.
10胡海利,李卫东,邵子瑜,等.未通过新生儿听力筛查的婴幼儿耳聋基因与AABR联合筛查结果分析[J].听力学及言语疾病杂志,2017,25:579.
11王辉兵,于飞,戴朴,等.GJB2结构功能及致病机制研究[J].中华耳科学杂志,2013,1:131.
12范文露,时雯雯,王必斌,等.浙江省1822例非综合征性感音神经性聋患者GJB2基因突变分析[J].临床耳鼻咽喉头颈外科杂志,2017,5:352.
13胡华梅,胡华,董艳玲,等.新生儿中常见的9个耳聋基因突变位点筛查分析[J].第三军医大学学报,2012,34:96.
14 Wu CM,Ko HC,Tsou YT,et al.Long-term cochlear implant outcomes in children with GJB2and SLC26A4 mutations[J].PLoS One,2015,10:e0138575.
15唐俊湘,孙玉秀,王朝红,等.2363例新生儿4个常见遗传性耳聋基因突变筛查结果分析[J].山东医药,2015,55:76.
16王秋菊.新生儿听力及基因联合筛查---中国模式与未来发展[J].临床耳鼻咽喉头颈外科杂志,2014,28:1733.
17要跟东,李守霞,张小芳,等.邯郸市特教学校耳聋患者SLC26A4基因突变分析[J].医学综述,2013,19:1669.
18王芳,刘星辰,郭玉芬.线粒体DNA突变与遗传性聋[J].听力学及言语疾病杂志,2016,24:405.
19潘拥军,蒋新液,卫雅蓉,等.新生儿听力筛查联合耳聋基因检测的应用[J].中国优生与遗传杂志,2015,23:66.