中华耳科学杂志2017，Vol.15Issue(1)：51-56,6.DOI:10.3969/j.issn.1672-2922.2017.01.011
94例非综合征性耳聋患儿基因突变结果分析
Mutation analysis of the common deafness genes in 94 children with non-syndromic hearing impairment
肖彩霞 1陈亚秋 1刘爽 1王洪月 1丁怡冰1
作者信息
- 1. 天津市妇女儿童保健中心五官听力科 天津 300070
- 折叠
摘要
Abstract
Objective To analyze the deafness gene mutations in children with non-syndromic hearing impairment (NSHI), and to investigate the genetic etiology and features of deafness disorders at the molecular level. Methods 94 children with NSHI diagnosed by The Center of Diagnosis and Treatment of Children's Hearing Disorders in Tianjin were screened for 20 hotspot of hearing loss-associated mutations from GJB2, GJB3, SLC26A4 and mitochondrial 12S rRNA (MTRNR1) using the matrix-assisted laser desorption ionization-time of flight mass spectrometry (MALDI-TOF MS). The data of genetic screening was analyzed with correlation to audiologic testing results. Results In 94 cases with moderate to profound sensorineural hearing loss, 73 of which presented with bilateral sensorineural hearing loss, and 21 with unilateral hearing loss. Deafness gene mutations were found in 31 subjects (32.98%, 31/94), 13 of which with sin-gle gene homozygous mutations, 9 of which with single gene and double-site heterozygous mutations, and 9 with sin-gle-gene and single-site mutations. The positive detective rate of deafness gene mutations in bilateral hearing loss group was 42.47%but no deafness gene was detected in unilateral hearing loss group. The positive detective rate of GJB2 and SLC26A4 in 94 subjects were 17.02%and 15.96%respectively, and no mutations found on GJB3 and MTRNR1. Sixteen subjects showed GJB2 mutations, 8 of which with homozygous mutations, 5 with double-site heterozygous mutations, and 3 with single-site heterozygous mutations. Fifteen subjects with bilateral hearing loss were SLC26A4 (PDS)-positive,5 of which were homozygous (at IVS7-2A>G), 4 subjects with double-site heterozygous mutations, and 6 subjects with single-site heterozygous mutations. The positive detective rates for GJB2 and SLC26A4 genes in the bilateral hearing loss group are 21.92% and 20.55% respectively, however these genes were not detected in the unilateral hearing loss group. Conclusions High proportion of etiologies in patients with NSHI were due to genetic factors. The heritability of bilateral deafness was higher than that of unilateral hearing loss. Regularly audiology follow-up for bilateral deafness and deafness gene-positive children was of great significance. The union screening could provide theoretical and practi-cal basis for the three level preventive measures to reduce birth defects.关键词
非综合征性聋/GJB2/SLC26A4/基因突变Key words
non-syndromic hearing impairment/GJB2/SLC26A4/gene分类
医药卫生引用本文复制引用
肖彩霞,陈亚秋,刘爽,王洪月,丁怡冰..94例非综合征性耳聋患儿基因突变结果分析[J].中华耳科学杂志,2017,15(1):51-56,6.
