International journal of pediatric otorhinolaryngology · 2025
Combined hearing screening and genetic screening of deafness among Sanya newborns in Hainan Province.
СтатьяНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Chen Liting, Cai Tian'e, Zeng Hui, Du Na, Li Cuiyun, Zhou Yue, Chen Kaiqiao, Shi Yanan, You Guoling, Yu Ying
Аннотация
OBJECTIVE: To conduct combined hearing and genetic screening for hearing impairment in newborns in Sanya City, and to characterize the distribution of common deafness-related gene mutations and population-specific features in Hainan Province.
METHODS: Hearing and genetic screening for deafness were jointly conducted on 15,283 newborns born at hospitals in Sanya City from 2022 to 2023. Hearing screening consisted of otoacoustic emissions and automated auditory brainstem responses. The 20 loci of four deafness-related genes (GJB2, GJB3, SLC26A4, and MT-RNR1) were examined.
RESULTS: A total of 421 cases of deafness-related gene mutations were identified, yielding a carrier rate of 2.75 %. Among these, 347 neonates (82.42 %) passed the physiologic hearing screening but carried deafness gene mutations. The detection rates for mutations in GJB2, GJB3, SLC26A4, and MT-RNR1 genes were 1.41 %, 0.12 %, 0.86 %, and 0.41 %, respectively. The c.235delC mutation in GJB2 is the most frequent genotype, accounting for 85.65 % of cases with GJB2 mutations, and the c.919-2A > G mutation in SLC26A4 is the second most common, accounting for 66.67 % of cases with SLC26A4 mutations. The detection rate of the GJB2 mutations in newborns who did not pass the hearing screening was significantly higher than that in newborns who passed the hearing screening (2.23 % vs 1.12 %, P < 0.01). Mutations were identified in newborns representing only 9 ethnic groups. The c.235delC mutation in the GJB2 gene was the most prevalent mutation among both the Han and Li ethnic groups. Additionally, the c.919-2A > G mutation of the SLC26A4 gene emerged as the second most common genotype in both ethnic groups.
CONCLUSIONS: The c.235delC mutation of GJB2 and c.919-2A > G mutation of SLC26A4 are the predominant types of deafness-related gene mutations in newborns in Sanya. Genetic screening serves as a valuable adjunct to newborn hearing screening by enabling the early the identification of infants at risk for hereditary hearing loss and aminoglycoside-induced ototoxicity. Large-scale implementation of combined hearing and genetic screening improves the overall detection of at-risk newborns, thereby facilitating prevention strategies and early clinical intervention to mitigate hearing impairment hearing impairment.
METHODS: Hearing and genetic screening for deafness were jointly conducted on 15,283 newborns born at hospitals in Sanya City from 2022 to 2023. Hearing screening consisted of otoacoustic emissions and automated auditory brainstem responses. The 20 loci of four deafness-related genes (GJB2, GJB3, SLC26A4, and MT-RNR1) were examined.
RESULTS: A total of 421 cases of deafness-related gene mutations were identified, yielding a carrier rate of 2.75 %. Among these, 347 neonates (82.42 %) passed the physiologic hearing screening but carried deafness gene mutations. The detection rates for mutations in GJB2, GJB3, SLC26A4, and MT-RNR1 genes were 1.41 %, 0.12 %, 0.86 %, and 0.41 %, respectively. The c.235delC mutation in GJB2 is the most frequent genotype, accounting for 85.65 % of cases with GJB2 mutations, and the c.919-2A > G mutation in SLC26A4 is the second most common, accounting for 66.67 % of cases with SLC26A4 mutations. The detection rate of the GJB2 mutations in newborns who did not pass the hearing screening was significantly higher than that in newborns who passed the hearing screening (2.23 % vs 1.12 %, P < 0.01). Mutations were identified in newborns representing only 9 ethnic groups. The c.235delC mutation in the GJB2 gene was the most prevalent mutation among both the Han and Li ethnic groups. Additionally, the c.919-2A > G mutation of the SLC26A4 gene emerged as the second most common genotype in both ethnic groups.
CONCLUSIONS: The c.235delC mutation of GJB2 and c.919-2A > G mutation of SLC26A4 are the predominant types of deafness-related gene mutations in newborns in Sanya. Genetic screening serves as a valuable adjunct to newborn hearing screening by enabling the early the identification of infants at risk for hereditary hearing loss and aminoglycoside-induced ototoxicity. Large-scale implementation of combined hearing and genetic screening improves the overall detection of at-risk newborns, thereby facilitating prevention strategies and early clinical intervention to mitigate hearing impairment hearing impairment.