<i>SLC</i>26<i>A</i>4基因致聋突变患儿的基因型和听力学特点分析

赵雪雷; 黄丽辉; 王雪瑶; 杜亚婷; 王现蕾; 程晓华; 赵丽萍; 李月

doi:10.13201/j.issn.1001-1781.2018.11.009

SLC26A4基因致聋突变患儿的基因型和听力学特点分析

- 1. 首都医科大学附属北京同仁医院耳鼻咽喉头颈外科北京市耳鼻咽喉科研究所耳鼻咽喉头颈外科学教育部重点实验室(北京, 100005);
- 2. 北京大学第一医院麻醉科
基金项目:
北京市自然科学基金面上项目（No：7172052）

详细信息

通讯作者: 黄丽辉,E-mail:huangpub@126.com

中图分类号: R764.3

收稿日期: 2018-04-09

Analysis of genotypes and audiological characteristics of children with SLC26A4 gene pathogenic mutations

- 1. Department of Otolaryngology Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing Institute of Otolaryngology, Key Laboratory of Otolaryngology Head and Neck Surgery (Capital Medical University), Ministry of Education, Beijing, 100005, China;
- 2. Department of Anesthesiology, Peking University First Hospital

More Information

Corresponding author: HUANG Lihui, E-mail: huangpub@126.com

Received Date: 09 April 2018

摘要

摘要: 目的：探讨SLC26A4基因型和听力学特点。方法：研究对象为0~7岁儿童70例。所有受试者接受九项晶芯遗传性耳聋基因芯片和（或）SLC26A4基因全编码区检测，确诊为纯合突变或复合杂合突变者；同时接受声导抗、听性脑干反应、听性稳态反应和小儿行为测听等听力学检测，接受新生儿听力筛查并有明确结果。根据基因型将受试者分为2组：SLC26A4基因纯合突变（A组）40例（57.14%），SLC26A4基因复合杂合突变（B组）30例（42.86%）。对SLC26A4基因位点突变频率、2组基因型与听力筛查结果、听力损失程度及听力曲线类型进行统计学分析。结果：70例患者中突变位点频率较高的前4位依次为IVS7-2A>G（76.43%）、2168A>G（15.00%）、1226G>A（2.86%）及2000T>C（2.16%）。34.29%的新生儿单耳或双耳通过听力筛查，其中A组和B组分别为32.50%和36.67%，2组差异无统计学意义。听力损失程度A组（56.25%）与B组（48.33%）均以极重度为主，2组差异无统计学意义。听力曲线类型A组以高频下降型为主（60.00%），B组以平坦型为主（55.00%），2组的差异有统计学意义。结论：SLC26A4基因致聋突变患儿以IVS7-2A>G突变位点和极重度听力损失为主。听力曲线纯合突变者可能多为高频下降型，复合杂合突变者可能多为平坦型。34.29%的患儿至少有一耳通过了新生儿听力筛查，提示SLC26A4基因突变可导致迟发性听力损失，临床应予以高度重视。
- SLC26A4基因 /
- 听力筛查 /
- 听力损失
Abstract: Objective: To explore the correlation of SLC26A4 genotype and audiology.Method: The subjects were 70 children aged 0 to 7 years old, who were admitted to otological outpatient department. All subjects received nine crystal hereditary deafness gene chip and confirmed by (or) SLC26A4 gene full coding region detection. The patients were diagnosed as homozygous or compound heterozygous mutations. At the same time, acoustic immittance, auditory brainstem response, auditory steady-state response and pediatric behavior audiometry, newborn hearing screening and other audiological tests were displayed. According to the genotype, the subjects were divided into two groups:group A (SLC26A4 gene homozygous mutation) in 40 cases, group B (SLC26A4 gene compound heterozygous mutation) in 30 cases. The frequency of SLC26A4 gene mutation, the two groups of genotypes and hearing screening results, the degree of hearing loss and audiometric configurations were analyzed statistically.Result: In 70 patients, the top 4 of the 70 patients with high frequency of mutations were IVS7-2A>G(76.43%), 2168A>G(15.00%), 1226G>A(2.86%) and 2000T>C(2.16%), respectively. 34.29% of newborns passed hearing screening with single or double ears, among which group A and group B were 32.50% and 36.67%,respectively. There was no statistically significant difference between two groups in hearing screening. The degree of hearing loss in group A(56.25%) and group B(48.33%) were mainly profound and there was no significant difference between them. The audiometric configurations:group A(60.00%) was mainly high frequency loss type, while group B(55.00%) was mainly flat type. The difference between them was statistically significant. Conclusion:The mutation sites of SLC26A4 gene were mainly IVS7-2A>G, and the degree of hearing loss was mostly profound. To the audiometric configurations, SLC26A4 gene homozygous mutant were mainly high frequency loss type, while SLC26A4 gene compound heterozygous mutant were mainly flat type. 34.29% children passed universal newborn hearing screening with one ear at least, which indicates SLC26A4 gene mutations can result in late-onset hearing loss, so those patients should be attached great importance.
- SLC26A4 gene /
- hearing screening /
- hearing loss

HTML全文

参考文献(11)

[1]	OLUSANYA B O.Neonatal hearing screening and intervention in resource-limited settings:an overview[J].Arch Dis Child, 2012, 97:654-659.
[2]	AZAIEZ H, YANG T, PRASAD S, et al.Genotypephenotype correlations for SLC26A4-related deafness[J].Hum Genet, 2007, 122:451-457.
[3]	卜行宽, 刘铤.世界卫生组织预防聋和听力减退工作情况介绍[J].中华耳鼻咽喉头颈外科杂志, 2000, 35(3):237-239.
[4]	刘佳星, 黄丽辉, 傅新星, 等.大前庭水管综合征患儿听力学检测特点分析[J].临床耳鼻咽喉头颈外科杂志, 2016, 30(21):1702-1705.
[5]	MAZZOLI M, CAMP G V, NEWTON V, et al.Recommendations for the Description of Genetic and Audiological Data for Families with Nonsyndromic Hereditary Hearing Impairment[J].Audiol Med, 2009, 1:148-150.
[6]	KIM B G, SHIN J W, PARK H J, et al.Limitations of hearing screening in newborns with PDS mutations[J].Int J Pediatr Otorhinolaryngol, 2013, 77:833-837.
[7]	IWATA A J, DUNNELL J, NORTON S J, et al.Prenatal diagnosis of SLC26A4 mutation and delayed onset of hearing loss[J].Otolaryngol Head Neck Surg, 2013, 148:705-706.
[8]	崔庆佳, 王国建, 张媛, 等.GJB2、SLC26A4基因相关耳聋儿童的听力损失特点分析[J].听力学及言语疾病杂志, 2014, 22(2):120-123.
[9]	JOINT COMMITTEE ON INFANT HEARING.Year 2007 position statement:Principles and guidelines for early hearing detection and intervention programs[J].Pediatrics, 2007, 120:898-898.
[10]	王国建, 袁永一, 李荣, 等.不同听力学表型人群中常见耳聋基因突变检出率的分析[J].临床耳鼻咽喉头颈外科杂志, 2011, 25(10):445-448.
[11]	BARTEL-FRIEDRICH S, FUCHS M, AMAYA B, et al.Large endolymphatic duct and sac syndrome:part 2:clinical manifestations[J].HNO, 2008, 56:225-225.