Journal of Otolaryngology and Ophthalmology of Shandong University ›› 2024, Vol. 38 ›› Issue (1): 1-8.doi: 10.6040/j.issn.1673-3770.0.2022.539

• Original Article •     Next Articles

Hotspots of deafness gene mutation and its effect on hearing in newborns

LI Wei, ZHAO Yi, GE Yueming, FU Hongtao, WANG Jindong, ZHANG Xiaolong, DONG Jie, CHENG Yuxiang   

  1. Department of Otolaryngology, Tangshan Maternal and child Health Care Hospital, Tangshan 063000, Hebei, China
  • Published:2024-01-12

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Abstract: Objective To explore the hotspots of deafness gene mutation and its effect on hearing in newborns in Tangshan city. Methods The data of 5 298 newborns born in Tangshan maternal and child health care hospital were analyzed retrospectively and hearing and deafness genes were screened. Hearing was screened by otoacoustic emission and auditory brainstem response, and the genetic basis of newborn deafness covering 15 variants in 4 genes was screened by the gene chip. Genes included GJB2(c.35delG, c.176_191del16, c.235delC, c.299_300delA.c.109G>A), GJB3(c.GJB3538 C>T), SLC26A4(IVS7-2A>G, c.2168A>G, c.1975 G>C, c.2027 T>A,c.1226G>A, IVS15+5 G>A, c.1174A>T, c.1229C>T), and 12srRNA(m.1555A>G). Results In total, 234 patients with deafness genes were identified as the deafness gene carrier group. A total of 2 404 patients were randomly selected from 5064 without deafness genes as the non-deafness gene carrier group to analyze the mutation hotspots of the deafness genes and their effects on hearing status. The prevalence of deafness genes was 4.41%(234/5 298). The positive rates of GJB2, SLC26A4, GJB3, mtDNA12SrRNA, double gene mutation, and single gene mutation were 2.49%(132/5 298), 1.34%(71/5 298), 0.28%(15/5 298), 0.19%(10/5 298), 0.09%(5/5 298), and 0.02%(1/5 298), which differed from previous reports. In primary hearing screening, the for deafness gene carrying group had a pass rate of 91.88%(215/234), a failure rate of 8.12%(19/234), and a diagnosis rate of 1.96%(3/153). In the non-carrier group, the pass rate 93.97%(2 259/2 404), the failure rate was 6.03%(145/2 404), and the diagnosis rate was 0.08%(2/2 364). The pass rate for bilateral ear, failure rate for bilateral ear, and diagnosis rate were different(P=0.001, P<0.001, P<0.001, respectively). Conclusion The common gene mutation for deafness in newborns in Tangshan City has a certain regional character, and carrying deafness genes is a high-risk factor of hearing impairment. The combined screening of hearing and hearing loss genes is beneficial for detecting hearing impairment.

Key words: Joint screening of hearing and deafness genes, GJB2, SLC26A4, mtDNA12SrRNA, GJB3

CLC Number: 

  • R764.43
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