Newborn Screening of Genetic Mutations in Common Deafness Genes With Bloodspot-Based Gene Chip Array Purpose This study screens for deafness gene mutations in newborns in the Northwest China population. Method The 9 sites of 4 common deafness genes (GJB2, GJB3, SLC26A 4, and mt 12S rRNA) were detected by bloodspot-based gene chip array in 2,500 newborns. Results We detected mutations ... Research Article
Research Article  |   March 08, 2018
Newborn Screening of Genetic Mutations in Common Deafness Genes With Bloodspot-Based Gene Chip Array
 
Author Affiliations & Notes
  • Xuehu He
    Clinical Laboratory Center, General Hospital of Ningxia Medical University, Yinchuan, China
    Ningxia Key Laboratory of Clinical and Pathogenic Microbiology, General Hospital of Ningxia Medical University, Yinchuan, China
  • Xiuzhong Li
    Department of Respiratory and Critical Care Medicine, General Hospital of Ningxia Medical University, Yinchuan, China
  • Yaqi Guo
    Clinical Laboratory Center, General Hospital of Ningxia Medical University, Yinchuan, China
  • Yue Zhao
    Clinical Laboratory Center, General Hospital of Ningxia Medical University, Yinchuan, China
  • Hui Dong
    Clinical Laboratory Center, General Hospital of Ningxia Medical University, Yinchuan, China
    Ningxia Key Laboratory of Clinical and Pathogenic Microbiology, General Hospital of Ningxia Medical University, Yinchuan, China
  • Jie Dong
    Clinical Laboratory Center, General Hospital of Ningxia Medical University, Yinchuan, China
    Ningxia Key Laboratory of Clinical and Pathogenic Microbiology, General Hospital of Ningxia Medical University, Yinchuan, China
  • Li Zhong
    Clinical Laboratory Center, General Hospital of Ningxia Medical University, Yinchuan, China
    Ningxia Key Laboratory of Clinical and Pathogenic Microbiology, General Hospital of Ningxia Medical University, Yinchuan, China
  • Zhiyun Shi
    Clinical Laboratory Center, General Hospital of Ningxia Medical University, Yinchuan, China
  • Yuying Zhang
    Clinical Laboratory Center, General Hospital of Ningxia Medical University, Yinchuan, China
  • Mario Soliman
    Department of Pediatrics, Pennsylvania State University College of Medicine, Hershey
  • Chunhua Song
    Department of Pediatrics, Pennsylvania State University College of Medicine, Hershey
  • Zhijun Zhao
    Clinical Laboratory Center, General Hospital of Ningxia Medical University, Yinchuan, China
    Ningxia Key Laboratory of Clinical and Pathogenic Microbiology, General Hospital of Ningxia Medical University, Yinchuan, China
  • Disclosure: The authors have declared that no competing interests existed at the time of publication.
    Disclosure: The authors have declared that no competing interests existed at the time of publication. ×
  • Correspondence to Zhijun Zhao: zhaozhijun@nxmu.edu.cn
  • Xuehu He and Xiuzhong Li equally contributed to this work.
    Xuehu He and Xiuzhong Li equally contributed to this work.×
  • Editor-in-Chief: Sumitrajit Dhar
    Editor-in-Chief: Sumitrajit Dhar×
  • Editor: Monita Chatterjee
    Editor: Monita Chatterjee×
Article Information
Hearing Disorders / Special Populations / Genetic & Congenital Disorders / Research Articles
Research Article   |   March 08, 2018
Newborn Screening of Genetic Mutations in Common Deafness Genes With Bloodspot-Based Gene Chip Array
American Journal of Audiology, March 2018, Vol. 27, 57-66. doi:10.1044/2017_AJA-17-0042
History: Received April 21, 2017 , Revised July 5, 2017 , Accepted August 4, 2017
 
American Journal of Audiology, March 2018, Vol. 27, 57-66. doi:10.1044/2017_AJA-17-0042
History: Received April 21, 2017; Revised July 5, 2017; Accepted August 4, 2017

Purpose This study screens for deafness gene mutations in newborns in the Northwest China population.

Method The 9 sites of 4 common deafness genes (GJB2, GJB3, SLC26A 4, and mt 12S rRNA) were detected by bloodspot-based gene chip array in 2,500 newborns.

Results We detected mutations of the 4 genes in 101 (4.04%) newborns; particularly, 0.20% detected the double mutations. In the Hui population, 4.58% of the newborns tested positive for mutations, whereas 4.01% of Han newborns tested positive for mutations. The detective rates are as follows: 1.44% for GJB2 235delC, 1.08% for SLC26A4 IVS7-2A>G, 0.48% for GJB2 299_300delAT, 0.28% for SLC26A4 2168A>G, 0.2% for mt 12S rRNA 1555A>G, and 0.16% for GJB3 538C>T. The 31.25% (5/16) of infants with GJB2 235delC, 50% (3/6) with GJB2 299_300delAT, and 25% (3/12) with SLC26A4 IVS7-2A>G showed abnormal hearing when tested; only 1 double mutation case received the hearing test, and this infant showed abnormality in both ears on the hearing test.

Conclusions High mutation rates in the common deafness genes were detected in newborns in Northwest China. Our study is helpful in understanding the deafness genomic epidemiology and also provides evidence for prenatal and postnatal care as well as policy making on population health in the region.

Acknowledgments
This work was supported by “The people's livelihood project 2016” (Neonatal hereditary deafness gene screening pilot projects) of the Ningxia Hui Autonomous Region (awarded to Zhijun Zhao).
Authorcontributions: X. H., X. L. Y. G., Y. Z., H. D., J. D., and Z. S. performed the biological experiments, analyzed the data, and participated in the experimental design. M. S. helped on writing the manuscript and English grammar correction. Z. H. and C. S. designed the experiments, interpreted the data, and wrote the manuscript.
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