Combination of hearing screening and genetic screening for deafness-susceptibility genes in newborns

Yao,Gen-Dong; Li,Shou-Xia; Chen,Ding-Li; Feng,Hai-Qin; Zhao,Su-Bin; Liu,Yong-Jie; Guo,Li‑Li; Yang,Zhi-Ming; Zhang,Xiao-Fang; Sun,Cai-Xia; Wang,Ze-Hui; Zhang,Wei-Yong

doi:10.3892/etm.2013.1406

2014-January Volume 7 Issue 1

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2014-January Volume 7 Issue 1

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Article

Combination of hearing screening and genetic screening for deafness-susceptibility genes in newborns

Authors:
- Gen-Dong Yao
- Shou-Xia Li
- Ding-Li Chen
- Hai-Qin Feng
- Su-Bin Zhao
- Yong-Jie Liu
- Li‑Li Guo
- Zhi-Ming Yang
- Xiao-Fang Zhang
- Cai-Xia Sun
- Ze-Hui Wang
- Wei-Yong Zhang
View Affiliations / Copyright

Affiliations: Department of Clinical Laboratory, Handan Central Hospital, Handan, Hebei 056002, P.R. China
Pages: 218-222
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Published online on: November 12, 2013

https://doi.org/10.3892/etm.2013.1406
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Abstract

The aim of this study was to determine the clinical significance of the results of screening of newborn hearing and the incidence of deafness-susceptibility genes. One thousand newborn babies in the Handan Center Hospital (Handan, China) underwent screening of hearing and deafness‑susceptibility genes. The first screening test was carried out using otoacoustic emissions (OAEs). Babies with hearing loss who failed to pass the initial screening were scheduled for rescreening at 42 days after birth. Cord blood was used for the screening of deafness-susceptibility genes, namely the GJB2, SLC26A4 and mitochondrial 12S rRNA (MTRNR1) genes. Among the 1,000 neonates that underwent the first hearing screening, 25 exhibited left-sided hearing loss, 21 exhibited right-sided hearing loss and 15 cases had binaural hearing loss. After rescreening 42 days later, only one of the initial 61 cases exhibited hearing loss under OAE testing. The neonatal deafness gene tests showed two cases with 1555A>G mutation and two cases with 1494C>T mutation of the MTRNR1 gene. In the SLC26A4 gene screening, four cases exhibited the heterozygous IVS7-2A>G mutation and one case exhibited heterozygous 1226G>A mutation. In the GJB2 gene screening, two cases exhibited the homozygous 427C>T mutation and 10 exhibited the heterozygous 235delC mutation. The genetic screening revealed 21 newborns with mutations in the three deafness-susceptibility genes. The overall carrier rate was 2.1% (21/1,000). The association of hearing and gene screening may be the promising screening strategy for the diagnosis of hearing loss.

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Journals

International Journal of Molecular Medicine

International Journal of Oncology

Molecular Medicine Reports

Oncology Reports

Experimental and Therapeutic Medicine

Oncology Letters

Biomedical Reports

Molecular and Clinical Oncology

World Academy of Sciences Journal

International Journal of Functional Nutrition

International Journal of Epigenetics

Medicine International

Combination of hearing screening and genetic screening for deafness-susceptibility genes in newborns

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