云南地区新生儿遗传性耳聋基因联合听力筛查结果分析

Analysis on effects of the neonatal hearing screening combined with deafness genes screening in YunNan

目的通过调查云南地区917名新生儿听力及耳聋基因联合筛查结果,探讨云南地区新生儿听力筛查及耳聋基因联合筛查的临床意义。方法选取2016～2018年在昆明市儿童医院就诊的917例新生儿,对21个热点突变进行检测,同时在未检测到位点的新生儿中随机抽取105例新生儿,将4个常见基因扩增至90个位点,进行检测。结果 917例新生儿中81例(8.33%)听力初筛未通过,复筛未通过16例(1.74%),均在3月龄时进行了听力学诊断,最终确诊11例(1.20%)先天性听力损失;共检测出热点突变30例,阳性率3.27%,其中GJB2突变12例,阳性率1.31%;SLC26A4突变11例,阳性率1.20%;线粒体12SrRNA突变5例,阳性率0.55%;GJB2与SLC26A4复合杂合突变2例;未检测出GJB3突变。105例扩增位点筛查的新生儿检出GJB2 c.109G>A突变3例,阳性率2.86%,纯合突变2例,杂合突变1例。917例中,听力筛查与基因筛查均通过868例,均未通过11例,听力筛查通过但基因筛查未通过18例,听力筛查未通过但基因筛查通过5例。结论在云南地区新生儿可能GJB2、12SrRNA和SLC26A4在耳聋发生中起重要作用;新生儿听力及耳聋基因联合筛查有助于及早发现对药物性耳聋、PDS综合征等听力筛查无法检测的迟发性耳聋,弥补单纯新生儿听力筛查的不足;新生儿听力及基因联合筛查对听障患儿的早期发现、早期诊断和早期干预具有重要意义;扩增检测位点能更容易发现耳聋基因。

Objectives This topic will be discussed about the characteristics of the common mutation frequency of hereditary deafness genes of newborn babies in Yunnan,which is based on investigating the results of the combined screening of 917 neonatal hearing and deafness genes in the area of Yunnan Province. The clinical significance of the results of the investigation will also be stated in this text. Methods We will test 21 hot-spot mutations among 917 cases of newborn babies from 2016 to 2018 in Kunming Children’s Hospital. Meanwhile, 105 samples from the newborns who are tested without the hot-spots in a random to detect their sites which are amplifi ed from 4 common genes to 90. Results 81 cases of newborns were not passed(8.33%). 16 cases of the double screening were failed(1.74%). All the audiology diagnosis was performed at the age of 3 months. The congenital hearing loss of 11 cases was confi rmed(1.20%). 30 cases of hot-spot mutations were detected in total and the positive rate was 3.27%,12 cases of GJB2 mutation and 1.31% of positive rate;11 cases of SLC 26A4 mutation and 1.20% of positive rate;5 cases of 12 SrRNA mutation and 0.55% positive rate;2 cases of GJB2 and SLC 26A4 composite heterozygous mutation;the GJB3 mutation undetected. 3 cases were the GJB2 c. 109 G>A mutation from 105 cases among newborn babies were undetected by the amplifi cation site screening and the positive rate was 2.86%. 2 cases were the homozygous mutation. In 917 cases,11 cases were passed based on both hearing and genetic screenings. 18 cases were passed hearing screening but genetic screening was not. 5 cases were passed the screening of genes but hearing screening was not. Conclusion GJB2,12 SrRNA and SLC26 A4 may play an important role in the hearing loss of neonates in the area of Yunnan. For the late-onset deafness,such as,drug-induced deafness and PDS syndrome etc. which can’t be detected by screening,the newborn hearing and the combination of deafness genes are greatly helpful to find these symptoms in the early. This can make up for the inadequacy of the simple newborn hearing screening. At the same time,the two screenings are signifi cant in our early detection,diagnosis and intervention among the deaf children. In addition,the amplifi ed detection can help us fi nd the deafness genes more easily.