Objective To explore the significance of newborn screening for mutations of deafness-related genes, in order to provide ear and hearing care guidance to parents.Methods With the informed consent of the parturient and her family, totally 33 321 cases of neonatal heel blood were collected from August 2014 to February 2018, matrix assisted laser desorption ionization time-of-flight mass spectrometry was used to detect 20 mutation sites of 4 deafness-related genes.Results Among 33 321 neonates, 1 693(5.08%) neonates were positive. The number of neonates carrying heterozygous mutations in GJB2, SLC26A4, and GJB3 were 893, 546 and 123, respectively. And the corresponding carrier rates were 2.68%, 1.64% and 0.37%, respectively. The number of neonates carrying homogeneous or heterogeneous mutation in mitochondrial 12S rRNA gene was 96 with a carrier rate of 0.29%. In addition, 8 cases of homozygous or complex heterozygous mutations in GJB2 gene and 2 cases of homozygous or complex heterozygous mutations in SLC26A4 gene were identified. There were also 25 cases of double heterozygous mutations.Conclusion Deafness-related gene screening in newborn is crucial for early detection, diagnosis and intervention in children with hearing impairment.
Key words
deafness-related gene /
screening /
neonate
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References
[1] 章雪芹, 魏澄, 王栋, 等. 遗传性耳聋基因筛查在新生儿听力筛查中应用研究[J]. 中国实用妇科与产科杂志, 2016, 32(3): 273-275.
[2] 林彩娟, 罗超, 李旺, 等. 5545例新生儿耳聋基因检测结果分析[J]. 中国妇幼保健, 2015, 309(34): 6007-6009.
[3] 侯小娟, 余勐, 丁伟. 109例听力筛查未通过的婴幼儿客观听力评估[J]. 中国儿童保健杂志, 2016, 24(5):541-543.
[4] 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,2017,31(5): 352-355
[5] 谢康, 刘艳秋, 阳彦, 等. 江西省1409例孕期女性耳聋基因筛查结果及耳聋出生缺陷的防控[J].中国妇幼保健, 2017, 32(18): 4464-4467.
[6] Nonose RW, Lezirovitz K, Batissoco AC, et al. Mutation analysis of SLC26A4, (Pendrin) gene in a Brazilian sample of hearing-impaired subjects[J].BMC Medical Genetics, 2018, 19(1): 73.
[7] Yang T, Vidarsson H, Rodrigoblomqvist S, et al. Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4)[J]. Am J Hum Genet, 2007, 80(6): 1055-1063.
[8] 郭晓华, 江丕文. 人类线粒体DNA的分子遗传特性[J]. 生物学通报, 2003, 38(12):19-20.
[9] 李守霞, 张学强, 陈丁莉, 等. 邢台市聋哑学生线粒体DNA C1494T和A1555G突变分析 [J]. 中国妇幼保健, 2017, 32(1): 94-96.
[10] Xia JH, Liu CY, Tang BS, et al. Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment[J]. Nature Genetics, 1998, 20(4): 370.
[11] 韩跃峰, 马士崟. GJB2基因突变在遗传性非综合征性耳聋中的研究进展[J]. 医学综述, 2012, 18(17):2774-2777.
[12] 王旭东, 洪拥军, 陈艺文, 等. 厦门地区遗传性耳聋流行病学调查[J]. 中华耳科学杂志, 2016, 14(6): 753-758.
[13] 黄莎莎, 黄邦清, 董敏, 等. 单侧大前庭水管综合征SLC26A4基因的突变分析[J]. 中华耳科学杂志, 2014(1):19-22.
[14] 孙东兰, 穆卫红,张艳华, 等. 一例大前庭水管综合征患儿的SLC26A4基因突变研究[J]. 中华医学遗传学杂志, 2017, 34(3): 390-392.
[15] Guo YF, Liu XW, Guan J, et al. GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects[J]. Acta Oto-laryngologica, 2009, 128(3): 297-303.
[16] 郝冬梅, 孟培, 曹东华,等. 1640例正常孕妇常见遗传性耳聋基因携带者筛查[J].中国妇幼保健, 2017, 32(2): 319-321.
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