Newborn screening of genetic mutations in common deafness genes with bloodspot-based gene chip array

Xuehu He, Xiuzhong Li, Yaqi Guo, Yue Zhao, Hui Dong, Jie Dong, Li Zhong, Zhiyun Shi, Yuying Zhang, Mario Soliman, Chunhua Song, Zhijun Zhao

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

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, SLC26A4, 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.

Original languageEnglish (US)
Pages (from-to)57-66
Number of pages10
JournalAmerican Journal of Audiology
Volume27
Issue number1
DOIs
StatePublished - Mar 1 2018

Fingerprint

Genetic Testing
Deafness
Oligonucleotide Array Sequence Analysis
Newborn Infant
Mutation
Hearing Tests
Genes
China
Postnatal Care
Population
Prenatal Care
Policy Making
Mutation Rate
Hearing
Ear
Epidemiology
Health

All Science Journal Classification (ASJC) codes

  • Speech and Hearing

Cite this

He, Xuehu ; Li, Xiuzhong ; Guo, Yaqi ; Zhao, Yue ; Dong, Hui ; Dong, Jie ; Zhong, Li ; Shi, Zhiyun ; Zhang, Yuying ; Soliman, Mario ; Song, Chunhua ; Zhao, Zhijun. / Newborn screening of genetic mutations in common deafness genes with bloodspot-based gene chip array. In: American Journal of Audiology. 2018 ; Vol. 27, No. 1. pp. 57-66.
@article{456e1ce5be994caebc4a8e9c5880018c,
title = "Newborn screening of genetic mutations in common deafness genes with bloodspot-based gene chip array",
abstract = "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, SLC26A4, 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.",
author = "Xuehu He and Xiuzhong Li and Yaqi Guo and Yue Zhao and Hui Dong and Jie Dong and Li Zhong and Zhiyun Shi and Yuying Zhang and Mario Soliman and Chunhua Song and Zhijun Zhao",
year = "2018",
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doi = "10.1044/2017_AJA-17-0042",
language = "English (US)",
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He, X, Li, X, Guo, Y, Zhao, Y, Dong, H, Dong, J, Zhong, L, Shi, Z, Zhang, Y, Soliman, M, Song, C & Zhao, Z 2018, 'Newborn screening of genetic mutations in common deafness genes with bloodspot-based gene chip array', American Journal of Audiology, vol. 27, no. 1, pp. 57-66. https://doi.org/10.1044/2017_AJA-17-0042

Newborn screening of genetic mutations in common deafness genes with bloodspot-based gene chip array. / He, Xuehu; Li, Xiuzhong; Guo, Yaqi; Zhao, Yue; Dong, Hui; Dong, Jie; Zhong, Li; Shi, Zhiyun; Zhang, Yuying; Soliman, Mario; Song, Chunhua; Zhao, Zhijun.

In: American Journal of Audiology, Vol. 27, No. 1, 01.03.2018, p. 57-66.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Newborn screening of genetic mutations in common deafness genes with bloodspot-based gene chip array

AU - He, Xuehu

AU - Li, Xiuzhong

AU - Guo, Yaqi

AU - Zhao, Yue

AU - Dong, Hui

AU - Dong, Jie

AU - Zhong, Li

AU - Shi, Zhiyun

AU - Zhang, Yuying

AU - Soliman, Mario

AU - Song, Chunhua

AU - Zhao, Zhijun

PY - 2018/3/1

Y1 - 2018/3/1

N2 - 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, SLC26A4, 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.

AB - 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, SLC26A4, 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.

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