5000例新生儿耳聋基因携带者全外显子序列检测结果分析

吴海燕; 孔德红; 杨静静; 孙磊; 郭玲

doi:10.3969/j.issn.1672-4933.2023.06.014

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5000例新生儿耳聋基因携带者全外显子序列检测结果分析

临床研究 | 更新时间：2023-12-06

- 5000例新生儿耳聋基因携带者全外显子序列检测结果分析
- The Whole Exon Sequence of Deafness Gene Analyzed in 5000 Cases of Neonatal Deafness Gene Carriers
- 中国听力语言康复科学杂志 2023年21卷第6期页码：613-617
- 作者机构：
  
  济宁市妇幼保健计划生育服务中心听力诊断中心济宁 272100
- 作者简介：
  
  吴海燕本科主治医师；研究方向：临床听力学及耳聋基因研究
  孙磊，E-mail：enptsun@163.com
- 基金信息：
  
  2021年济宁市重点研发计划项目（医学研究和临床医疗类）(济科字［2021］36号)
- DOI：10.3969/j.issn.1672-4933.2023.06.014
  中图分类号：
- 纸质出版日期：2023-11-15，
  
  收稿日期：2023-06-15，
- 稿件说明：
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吴海燕,孔德红,杨静静等.5000例新生儿耳聋基因携带者全外显子序列检测结果分析[J].中国听力语言康复科学杂志,2023,21(06):613-617.

WU Hai-yan,KONG De-hong,YANG Jing-jing,et al.The Whole Exon Sequence of Deafness Gene Analyzed in 5000 Cases of Neonatal Deafness Gene Carriers[J].Chinese Scientific Journal of Hearing and Speech Rehabilitation,2023,21(06):613-617.
吴海燕,孔德红,杨静静等.5000例新生儿耳聋基因携带者全外显子序列检测结果分析[J].中国听力语言康复科学杂志,2023,21(06):613-617. DOI： 10.3969/j.issn.1672-4933.2023.06.014.

WU Hai-yan,KONG De-hong,YANG Jing-jing,et al.The Whole Exon Sequence of Deafness Gene Analyzed in 5000 Cases of Neonatal Deafness Gene Carriers[J].Chinese Scientific Journal of Hearing and Speech Rehabilitation,2023,21(06):613-617. DOI： 10.3969/j.issn.1672-4933.2023.06.014.

摘要

目的

探讨

GJB2

和

SLC26A4

耳聋基因突变携带者携带另一个致病突变的可能性及其临床听力学特点。

方法

选取2019年1月～2021年12月济宁地区5000名

GJB2

和

SLC26A4

耳聋基因突变新生儿携带者，其中

GJB2

全外显子序列检查2912例，

SLC26A4

全外显子序列检查2088例，对全外显子序列检查后携带另一个致病位点的新生儿均做听力学检查，包括听性脑干反应（ABR）、畸变产物耳声发射（OAE）、声导抗（acoustic immittance）、多频稳态诱发电位（ASSR）和小儿行为测听等，出生后6个月和12个月分别进行听力随访。

结果

101例新生儿携带另一个致病位点，出生后3个月做听力诊断，6个月和12个月进行随访并检查，最后共30例确诊为不同程度的耳聋，74例听力正常。

GJB2

全外显子序列检测87例，其中听力正常67例、听力异常20例、轻度聋13例、中度聋2例、极重度聋5例。

SLC26A4

全外显子序列检测14例，听力正常4例，轻度聋3例，中度聋2例，重度或极重度耳聋5例。

结论

GJB2

和

SLC26A4

致病位点携带者进行全外显子序列检查是必要的，对检测出另一个致病位点的婴幼儿进行临床听力学检查和随访，对临床诊断及干预是良好的补充。

Abstract

Objective

To investigate the possibility of carrying another mutation in

GJB2

and

SLC26A4

deafness genes and its clinical audiological characteristics

whole-exome sequencing (including all coding regions and splicing sites) was performed in the mutation carriers of

GJB2

and

SLC26A4

deafness genes.

Methods

The study subjects were 211

800 newborns born in Jining from January 1

2019 to December 31

2021

all of whom received genetic screening for neonatal deafness (including 4 genes and 20 loci). The screening results were as follows: There were 11860 deafness gene carriers

including 5718

GJB2

carriers and 4447

SLC26A4

carriers. The recall was notified by telephone

among which 2912 cases of

GJB2

and 2088 cases of

SLC26A4

were examined in full sequence. Audiological examination was performed on all neonates carrying another pathogenic site after full sequence examination. Auditory brainstem response (ABR)

distortion product otoacoustic emission (OAE)

acoustic immanence (AI)

multifrequency steady-state evoked potential (ASSR) and behavioral audiometry were included in the hearing follow-up at 6 and 12 months after birth.

Results

A total of 5000 cases of hearing loss gene carriers including

GJB2

and

SLC26A4

were examined by whole-exome sequencing. It was found that 101 newborns carried another pathogenic locus

after 6 and 12 months follow-up

30 cases were diagnosed as hearing loss and 74 cases were normal hearing. The whole exon sequence of

GJB2

was detected in 87 cases

including 67 cases of normal hearing

20 cases of abnormal hearing

13 cases of mild hearing loss

2 cases of moderate hearing loss

5 cases of severe hearing loss. The whole exon sequence of

SLC26A4

was detected in 14 cases

4 cases were normal hearing

including 3 cases of mild hearing loss

2 cases of moderate hearing loss

5 cases of severe or severe hearing loss.

Conclusion

It is necessary to carry out full sequence examination for the carriers of

GJB2

and

SLC26A4

pathogenic sites

and clinical audiology examination and follow-up for infants and young children with another pathogenic site is detected

which is a good supplement for clinical diagnosis and intervention.

关键词

耳聋基因听力新生儿全外显子序列

Keywords

Deafness geneHearingNewbornComplete sequence

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