Research on the progress of newborn hearing screening combined with deafness gene testing
DOI: 10.23977/medbm.2024.020211 | Downloads: 55 | Views: 649
Author(s)
Xiaolong Wu 1, Yazhen Wu 1, Jiannan Liu 2, Dandan Yang 1
Affiliation(s)
1 Qinghai University Affiliated Hospital, Qinghai University, Xining City, Qinghai Province, China
2 Qinghai Maternal and Child Health Hospital, Qinghai University, Xining City, Qinghai Province, China
Corresponding Author
Yazhen WuABSTRACT
Deafness is one of the most common birth defects in newborns, ranking at the top of the five major disabilities. It is essential to perform rapid and precise genetic screening for combined hearing and deafness in newborns immediately after birth. In recent years, due to the rapid advancements in molecular biology technology, research into deafness genes has deepened significantly. Selecting the appropriate genetic tests enhances the detection rate of deafness genes. Choosing suitable intervention strategies can effectively avoid the progression from deafness to muteness. This ensures that children with congenital hearing impairments receive timely and effective interventions and treatments, reducing the incidence of neonatal deafness and enhancing the quality of life for deaf children. This review summarizes the current state of hereditary hearing loss, aiming to offer optimal guidance for advancing combined newborn hearing and genetic screening in clinical practice.
KEYWORDS
Newborn; Hearing screening; Deafness gene testing; Newborn hearing combined with genetic screening for deafnessCITE THIS PAPER
Xiaolong Wu, Yazhen Wu, Jiannan Liu, Dandan Yang, Research on the progress of newborn hearing screening combined with deafness gene testing. MEDS Basic Medicine (2024) Vol. 2: 76-83. DOI: http://dx.doi.org/10.23977/medbm.2024.020211.
REFERENCES
[1] Expert Consensus on Genetic Variation Screening Technology for Hereditary Deafness "Expert Group, Inter laboratory Quality Evaluation Expert Committee for Prenatal Screening and Diagnosis Laboratory of Clinical Laboratory Center of National Health Commission, Inter laboratory Quality Evaluation Expert Committee for Neonatal Genetic Metabolic Disease Screening Laboratory of Clinical Laboratory Center of National Health Commission Expert consensus on genetic mutation screening technology for hereditary hearing loss [J]. Chinese Journal of Medical Genetics, 2019(03):195-198.
[2] Yuan Yongyi, Dai Pu. Discussion on Standardized Screening and Diagnosis of Hereditary Deafness [J]. Chinese Journal of Otology, 2019, 17(05):611-615.
[3] National Health and Family Planning Commission Newborn Disease Screening Hearing Diagnosis and Treatment Group. Guidelines for Diagnosis and Intervention of Hearing Loss in Infants and Young Children [J]. Chinese Journal of Otolaryngology Head and Neck Surgery, 2018, 53(3):181-188.
[4] Wang Qiuju, Zhao Yali, Lan Lan, et al. Implementation Plan and Strategy of Gene Screening for Neonatal Deafness [J]. Chinese Journal of Otolaryngology Head and Neck Surgery, 2007, 42(11):809-813.
[5] Zhang Jiao, Wang Dayong, Han Bing, et al. A systematic review and meta-analysis of combined screening of newborn hearing and genetics [J]. Chinese Journal of Otology, 2020, 18(02):216-224.
[6] Wang Q, Xiang J, Sun J, et al. Nationwide population genetic screening improves outcomes of newborn screening for hearing loss in China. Genet Med. 2019 Oct; 21(10):2231-2238.
[7] Zhou Shihao, Hou Da, Chen Jing, et al. Clinical study on combined screening of hearing and deafness genes in newborns in Changsha area [J]. Chinese Journal of Otology, 2023, 21(03):307-314.
[8] Bi Q, Huang S, Wang H, et al. Preimplantation genetic testing for hereditary hearing loss in Chinese population. J Assist Reprod Genet. 2023 Jul;40(7):1721-1732.
[9] García-García G, Berzal-Serrano A, García-Díaz P, et al. Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice. Genes (Basel). 2020 Dec 7; 11(12):1467.
[10] Sheffield AM, Smith RJH. The Epidemiology of Deafness. Cold Spring Harb Perspect Med. 2019 Sep 3; 9(9): a033258.
[11] Neumann K, Chadha S, Tavartkiladze G, Bu X, White KR. Newborn and Infant Hearing Screening Facing Globally Growing Numbers of People Suffering from Disabling Hearing Loss. Int J Neonatal Screen. 2019 Jan 18; 5(1):7.
[12] Deafness and hearing loss. World Health Organization. Page publishing date: February, 2024.Reference date: August, 2024.https://www.who.int/news-room/fact-sheets/detail/deafness-and-hearing-loss.
[13] China Deafness Gene Screening and Diagnosis Clinical Multi Center Research Collaboration Group, National Technical Guidance Group for Prevention and Treatment of Deafness Genetic screening standards for hereditary hearing loss [J] Chinese Journal of Medicine, 2021, 101(2):97-102.
[14] Hardani AK, Goodarzi E, Delphi M, Badfar G. Prevalence and Risk Factors for Hearing Loss in Neonates Admitted to the Neonatal Intensive Care Unit: A Hospital Study. Cureus. 2020 Oct 27; 12(10):e11207.
[15] Zhuang Yangping. The impact of different screening techniques on the effectiveness of newborn hearing screening [J]. Chinese Medical Guidelines, 2023, 21(11):45-48.
[16] Wroblewska-Seniuk KE, Dabrowski P, Szyfter W, Mazela J. Universal newborn hearing screening: methods and results, obstacles, and benefits. Pediatr Res. 2017 Mar; 81(3):415-422.
[17] Wen Cheng, Huang Lihui, Wang Xianlei, Zhao Xuelei, Deng Kui, Li Xiaohong, etc. Meta analysis of the efficacy of OAE and AABR in detecting hearing loss in neonatal hearing screening [J]. Journal of Audiology and Speech Disorders, 2020, 28(2): 201-206.
[18] Han GY, Xu Z, Li QS, et al. Detection of hereditary hearing loss gene by DNA microarray. Eur Rev Med Pharmacol Sci. 2017 Aug; 21(16):3538-3542.
[19] Wang Cuicui, Yuan Huijun. Application and research progress of high-throughput sequencing technology in genetic hearing loss research [J]. Genetics, 2017, 39(03):208-219.
[20] Lin YF, Lin HC, Tsai CL, Hsu YC. GJB2 mutation spectrum in the Taiwanese population and genotype-phenotype comparisons in patients with hearing loss carrying GJB2 c.109G>A and c.235delC mutations. Hear Res. 2022 Jan;413:108135.
[21] Xia H, Huang X, Xu H, et al. GJB2 c.235delC variant associated with autosomal recessive nonsyndromic hearing loss and auditory neuropathy spectrum disorder. Genet Mol Biol. 2019 Jan-Mar; 42(1):48-51.
[22] Guoxue Hong, Zhang Di, Lu Hong. Analysis of Susceptible Gene Mutations for Hereditary Hearing Loss in Newborns in Southwest Guizhou and Its Clinical Significance [J]. Technology and Health, 2023(1):28-31.
[23] Dai Pu, Yu Fei, Han Bing, et al. Study on the distribution and frequency of hotspot mutations in severe sensorineural hearing loss populations in different regions and ethnicities of China [J]. Chinese Journal of Otolaryngology Head and Neck Surgery, 2007, 42(11):804-808.
[24] Wang Leilei, Gu Ying, Yang Shuting, etc. Mutation analysis of 117 non syndromic hearing loss patients [J]. Chinese Journal of Medical Genetics, 2019, 36(2):108-111.
[25] Danilchenko VY, Zytsar MV, Maslova EA, et al. Insight into the Natural History of Pathogenic Variant c.919-2A>G in the SLC26A4 Gene Involved in Hearing Loss: The Evidence for Its Common Origin in Southern Siberia (Russia). Genes (Basel). 2023 Apr 17;14(4):928.
[26] Liu Licui, Wang Xia, Li Yongjing, et al. Analysis of auditory phenotypes and genetic mutations in 558 children with non syndromic hearing impairment [J]. Maternal and Child Health Care in China, 2020, 35(6):1089-1092.
[27] Huang Lihui, Zhao Xuelei, Cheng Xiaohua, etc. Genotyping and Phenotypic Analysis of 850 Newborns with Single Heterozygous SLC26A4 Mutations in Deafness Gene Screening [J]. Chinese Journal of Otorhinolaryngology Head and Neck Surgery, 2023, 58(2):117-125.
[28] Qu Chunyan, Wang Jing, Shen Min et al. Analysis of Hearing Screening and Diagnosis Results of Newborns Carrying mtDNA 12SrRNA Gene Mutation [J]. Journal of Audiology and Speech Diseases, 2022, 30(02):198-199.
[29] Finsterer J. Variant m.1555A>G in MT-RNR1 causes hearing loss and multiorgan mitochondrial disorder. Medicine (Baltimore). 2020 Feb;99(6):e18488.
[30] O'Sullivan ME, Perez A, Lin R, et al. Towards the Prevention of Aminoglycoside-Related Hearing Loss. Front Cell Neurosci. 2017 Oct 18; 11: 325.
[31] Xia JH, Liu CY, Tang BS, et al. Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nat Genet. 1998 Dec;20(4):370-373.
[32] Aliazami F, Farhud D, Zarif-Yeganeh M, Salehi S, Hosseinipour A, Sasanfar R, Eslami M. Gjb3 Gene Mutations in Non-Syndromic Hearing Loss of Bloch, Kurd, and Turkmen Ethnicities in Iran. Iran J Public Health. 2020 Nov; 49(11):2128-2135.
[33] Jiang L, Wang D, He Y, Shu Y. Advances in gene therapy hold promise for treating hereditary hearing loss. Mol Ther. 2023 Apr 5; 31(4):934-950.
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