机构:[1]Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China首都医科大学附属北京同仁医院首都医科大学附属同仁医院[2]Beijing Institute of Otolaryngology, Beijing, China研究所耳鼻咽喉科研究所首都医科大学附属北京同仁医院首都医科大学附属同仁医院[3]Key Laboratory of Otolaryngology Head and Neck Surgery (Capital Medical University), Ministry of Education, Beijing, China首都医科大学附属同仁医院[4]CapitalBio Corporation & National Engineering Research Center for Beijing Biochip Technology, Beijing, China.
Genetic screening of newborns for deafness plays an important role in elucidating the etiology of deafness, diagnosing it early, and intervening in it. Genetic screening of newborns has been conducted for 11 years in Beijing. It started with a chip to screen for 9 variants of 4 genes in 2012; the chip screened for 15 variants of those genes in 2018, and it now screens for 23 variants of those genes. In the current study, a comparative analysis of three screening protocols and follow-up for infants with pathogenic variants was performed. The rates of detection and hearing test results of infants with pathogenic variants were analyzed. Subjects were 493,821 infants born at 122 maternal and child care centers in Beijing from April 2012 to August 2023. Positivity increased from 4.599% for the chip to screen for 9 variants to 4.971% for the chip to screen for 15 variants, and further to 11.489% for the chip to screen for 23 variants. The carrier frequency of the GJB2 gene increased from 2.489% for the chip to screen for 9 variants and 2.422% for the chip to screen for 15 variants to 9.055% for the chip to screen for 23 variants. The carrier frequency of the SLC26A4 gene increased from 1.621% for the chip to screen for 9 variants to 2.015% for the chip to screen for 15 variants and then to 2.151% for the chip to screen for 23 variants. According to the chip to screen for 9 variants and the chip to screen for 15 variants, the most frequent mutant allele was c.235delC. According to the chip to screen for 23 variants, the most frequent mutant allele was c.109G>A. The chip to screen for 15 variants was used to screen 66.67% (14/21) of newborns with biallelic variants in the SLC26A4 gene for newly added mutations. The chip to screen for 23 variants was used to screen 92.98% (53/57) of newborns with biallelic variants in the GJB2 gene (52 cases were biallelic c.109G>A) and 25% (1/4) of newborns with biallelic variants in the SLC26A4 gene for newly added mutations. Among the infants with pathogenic variants (biallelic variants in GJB2 or SLC26A4), 20.66% (25/121) currently have normal hearing. In addition, 34.62% (9/26) of newborns who passed the hearing screening were diagnosed with hearing loss. Findings indicate that a growing number of newborns have benefited, and especially in the early identification of potential late-onset hearing loss, as the number of screening sites has increased. Conducting long-term audiological monitoring for biallelic variants in individuals with normal hearing is of paramount significance.
基金:
Capital's Funds for Health Improvement and Research (grant no. CFH 2022-2-1092) and from the National Natural Science Foundation of China General Program (grant nos. 82071064 and 81870730).
第一作者机构:[1]Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China[2]Beijing Institute of Otolaryngology, Beijing, China[3]Key Laboratory of Otolaryngology Head and Neck Surgery (Capital Medical University), Ministry of Education, Beijing, China
通讯作者:
通讯机构:[1]Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China[2]Beijing Institute of Otolaryngology, Beijing, China[3]Key Laboratory of Otolaryngology Head and Neck Surgery (Capital Medical University), Ministry of Education, Beijing, China
推荐引用方式(GB/T 7714):
Ruan Yu,Wen Cheng,Cheng Xiaohua,et al.Genetic screening of newborns for deafness over 11 years in Beijing, China: More infants could benefit from an expanded program[J].Bioscience Trends.2024,18(4):303-314.doi:10.5582/bst.2024.01178.
APA:
Ruan Yu,Wen Cheng,Cheng Xiaohua,Zhang Wei,Zhao Liping...&Han Demin.(2024).Genetic screening of newborns for deafness over 11 years in Beijing, China: More infants could benefit from an expanded program.Bioscience Trends,18,(4)
MLA:
Ruan Yu,et al."Genetic screening of newborns for deafness over 11 years in Beijing, China: More infants could benefit from an expanded program".Bioscience Trends 18..4(2024):303-314