Zhang Junqing, Wang Peng, Han Bing, Ding Yibing, Pan Lei, Zou Jing, Liu Haisheng, Pang Xinzhi, Liu Enqing, Wang Hongyue, Liu Hongyan, Zhang Xudong, Cheng Xiu, Feng Dafei, Li Qian, Wang Dayong, Zong Liang, Yi Yuting, Tian Ning, Mu Feng, Tian Geng, Chen Yaqiu, Liu Gongshu, Zhang Fuxia, Yi Xin, Yang Ling, Wang Qiuju
BGI-Tianjin, Tianjin, China; Tianjin Medical Genomics Technology Engineering Center, Tianjin, China.
Int J Pediatr Otorhinolaryngol. 2013 Dec;77(12):1929-35. doi: 10.1016/j.ijporl.2013.08.038. Epub 2013 Sep 8.
Newborn hearing screening (NHS) is used worldwide due to its feasibility and cost-efficiency. However, neonates with late-onset and progressive hearing impairment will be missed by NHS. Genetic factors account for an estimated 60% of congenital profound hearing loss. Our previous cohort studies were carried out in an innovative mode, i.e. hearing concurrent genetic screening, in newborns to improve the abilities or early diagnosis and intervention for the hearing defects. In this study, we performed the first clinical practice of this mode in Tianjin city.
A large cohort of 58,397 neonates, born between December 2011 and December 2012, in 44 hospitals in Tianjin, were screened for 20 hot spot hearing loss associated mutations from GJB2, GJB3, SLC26A4 and MTRNR1(12S rRNA). The data of genetic screening results was comprehensively analyzed with newborn hearing screening (NHS) results.
We developed an accurate, high throughput genetic screening method and applied it to a total of 58,397 newborns in Tianjin. 3225 (5.52%) infants were detected to carry at least one mutation allele in GJB2, GJB3, SLC26A4 or MTRNR1. 34 (0.58‰) infants were positive for hearing loss caused by GJB2 or SLC26A4 mutations (homozygote or compound heterozygote). 54(0.93‰) infants are heterozygous of various genes. 109(1.87‰) infants had the pathological mitochondrial DNA mutation.
Accurate, comprehensive hearing loss associated genetic screening can facilitate genetic counseling and provides valuable prognostic information to affected infants. This united screening mode of this study was a promising clinical practice.
新生儿听力筛查（NHS）因其可行性和成本效益在全球范围内得到应用。然而，迟发性和进行性听力障碍的新生儿会被NHS漏检。遗传因素估计占先天性重度听力损失的60%。我们之前的队列研究以一种创新模式进行，即在新生儿中进行听力同步基因筛查，以提高听力缺陷的早期诊断和干预能力。在本研究中，我们在天津市首次开展了这种模式的临床实践。
对2011年12月至2012年12月期间在天津市44家医院出生的58397名新生儿组成的大队列，进行GJB2、GJB3、SLC26A4和MTRNR1（12S rRNA）的20个热点听力损失相关突变的筛查。将基因筛查结果数据与新生儿听力筛查（NHS）结果进行综合分析。
我们开发了一种准确、高通量的基因筛查方法，并将其应用于天津市共58397名新生儿。检测到3225名（5.52%）婴儿在GJB2、GJB3、SLC26A4或MTRNR1中携带至少一个突变等位基因。34名（0.58‰）婴儿因GJB2或SLC26A4突变（纯合子或复合杂合子）导致听力损失呈阳性。54名（0.93‰）婴儿为各种基因的杂合子。109名（1.87‰）婴儿有线粒体DNA病理性突变。
准确、全面的听力损失相关基因筛查有助于遗传咨询，并为受影响的婴儿提供有价值的预后信息。本研究的这种联合筛查模式是一种有前景的临床实践。
