6957例新生儿听力筛查联合耳聋基因检测结果分析

Combined hearing and genetic screening in 6 957 newborns

目的明确江西地区新生儿常见耳聋基因的突变类型和突变携带率,并对听力筛查和耳聋基因联合检测进行评价。方法对2011年11月至2019年6月江西省妇幼保健院出生的6 957例新生儿联合耳声发射与听性脑干反应进行听力学筛查,同时采用耳聋基因芯片对常见的4个耳聋基因9个位点进行检测,对结果进行回顾性分析。结果 6 957例新生儿中,共检测出耳聋基因异常者282例(4.05%),其中GJB2c.235de1C杂合突变142例(2.04%),c.235de1C纯合突变1例(0.01%)。GJB3 c.538C> T杂合突变7例(0.1%),SLC26A4 IVS7-2A> G杂合突变52例(0.74%),c.2168A> G杂合突变16例(0.22%)。mtDNA12SrRNAm.1555A> G均质突变20例(0.28%),mtDNA12S rRNAm.1494 C> T均质突变1例(0.01%)。听力筛查两次未通过88例,未通过率1.26%,5例诊断为感音神经性耳聋。结论江西地区新生儿耳聋基因突变热点分别为GJB2 c.235delC与SLC26A4 IVS7-2。听力筛查联合基因检测对降低耳聋发生率有重大意义。

Objective To determine the mutation type and mutation carrying rate of deafness genes innewborns in Jiangxi province,and to evaluate the significance of combined hearing and genetic screening.Methods From November 2011 to June 2019,a total of 6,957 local newborns were screened with otoacoustic emissions,automated auditory brainstem responses and genetic testing for nine mutations of four genes. Gene sequencing for 9 mutation at 4 deafness gene were determined. The results were analyzed retrospectively.ResultsAmong the 6 957 newborns,282 mutations were identified(4.05%),including 142 cases for GJB2 c.235 del C mutations(2.04%),and 1 case for c.235 de1 C homozygous mutation(0.01%),7 cases for GJB3 c.538 c > T heterozygous mutations(0.1%),52 cases for SLC26 A4 IVS7-2 A > G heterozygous mutation(0.74%),16 cases for c.216 a8 > G heterozy-gous mutation(0.22%),20 cases for mt DNA12 Sr RNA m.1555 A > G,homogenous mutation(0.28%),and 1 casefor mt DNA12 Sr RNA m.1494 C > T homogenous mutation(0.01%). Among the 6,957 newborn hearing screeningresults,88 of them were not passed the hearing screening twice,with a failure rate of 1.26%,and 5 of them werediagnosed as deafness.ConclusionGJB2 c.235 del C and SLC26 A4 IVS7-2 A > G are the most common geneticmutation of deafness in Jiangxi. Combined hearing and genetic screening iss important to reduce deafness.