Analysis of deafness susceptibility gene of neonates in northern Guangdong, China

• Published in: Scientific reports 2024-01, Vol.14 (1), p.362-362, Article 362
• Main Authors: Ma, Zhanzhong, Huang, Wenbo, Xu, Jing, Qiu, Jianwu, Liu, Yulan, Ye, Meixian, Fan, Shushu
• Format: Article
• Language: English
• Subjects: 692/308; 692/4017; China - epidemiology; Connexin 26 - genetics; Connexins - genetics; Deafness; Deafness - diagnosis; Deafness - epidemiology; Deafness - genetics; DNA Mutational Analysis; DNA, Mitochondrial - genetics; Epidemiology; Genes; Humanities and Social Sciences; Humans; Hybridization; Infant, Newborn; Mitochondrial DNA; multidisciplinary; Mutation; Neonates; Next-generation sequencing; Science; Science (multidisciplinary)
• ISSN: 2045-2322; 2045-2322
• DOI: 10.1038/s41598-023-49530-2

This study aimed to explore the molecular epidemiology characteristics of deafness susceptibility genes in neonates in northern Guangdong and provide a scientific basis for deafness prevention and control. A total of 10,183 neonates were recruited between January 2018 and December 2022 at Yuebei People's Hospital. Among these, a PCR hybridization screening group of 8276 neonates was tested for four deafness genes: GJB2, SLC26A4, mtDNA , and GJB3 by PCR hybridization. Another group used next-generation sequencing (NGS) to detect genetic susceptibility genes in 1907 neonates. In PCR hybridization screening group, 346 (4.18%) of 8276 neonates were found to be carriers of the deafness gene. Among these, 182 (2.2%) had GJB2 variants, 114 (1.38%) had SLC26A4 variants, 35 (0.42%) had mtDNA variants, and 15 (0.18%) had GJB3 variants. In NGS Screening Group, 195 out of 1907 neonates were found to be carriers of the deafness gene, with a positive rate of 10.22%. Among these, 137 (7.18%) had GJB2 variants, 41 (2.15%) had SLC26A4 variants, 11 (0.58%) had mtDNA variants, and 6 (0.31%) had GJB3 variants. The prevalence of deafness gene variants was high in Northern Guangdong Province. The most common gene for deafness was GJB2 , followed by SLC26A4 and mtDNA . GJB3 variants are rare. Compared with PCR hybridization method, NGS technology can expand the screening scope and greatly improve the detection rate of deafness genes. The c.109G>A of GJB2 was found to occur at a high frequency, which should be considered. Therefore, it is important to conduct neonatal deafness gene screening to prevent and control hereditary deafness.