Academic Journal
Concurrent Newborn Hearing and Genetic Screening in a Multi-Ethnic Population in South China
| العنوان: | Concurrent Newborn Hearing and Genetic Screening in a Multi-Ethnic Population in South China |
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| المؤلفون: | Tang, Xiangrong, Liu, Lihua, Liang, Sulan, Liang, Meie, Liao, Tao, Luo, Shiqiang, Yan, Tizhen, Chen, Jianping |
| المصدر: | Frontiers in Pediatrics ; volume 9 ; ISSN 2296-2360 |
| بيانات النشر: | Frontiers Media SA |
| سنة النشر: | 2021 |
| المجموعة: | Frontiers (Publisher - via CrossRef) |
| الوصف: | Hearing loss is a common sensory deficit in humans with intricate genomic landscape and mutational signature. Approximately 1–3 out of 1,000 newborns have hearing loss and up to 60% of these cases have a genetic etiology. In this study, we conducted the concurrent newborn hearing and genetic screening in 20 mutations (18 pathogenic variants in GJB2, SLC26A4 , and MT-RNR1 and 2 uncertain clinical significance variants in GJB3 ) for 9,506 normal newborns (4,977 [52.4%] males) from 22 ethnic population in South China. A total of 1,079 (11.4%) newborns failed to pass the initial hearing screening; 160 (1.7%) infants failed to pass the re-screening, and 135 (1.4%) infants presented the diagnostic hearing loss. For the genetic screening, 220 (2.3%) newborns who presented at least one of the screened mutations were more likely to fail the hearing screening and have diagnostic hearing loss than mutation-negative newborns. In comparison to the differences of distribution of mutations, we did not identify any significant difference in the prevalence of screened mutations between Han group ( n = 5,265) and Zhuang group ( n = 3,464), despite the lack of number of minority ethnic groups. Studies including larger number of minority ethnic populations are needed in the future. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | unknown |
| DOI: | 10.3389/fped.2021.734300 |
| DOI: | 10.3389/fped.2021.734300/full |
| الاتاحة: | http://dx.doi.org/10.3389/fped.2021.734300 https://www.frontiersin.org/articles/10.3389/fped.2021.734300/full |
| Rights: | https://creativecommons.org/licenses/by/4.0/ |
| رقم الانضمام: | edsbas.A6E58900 |
| قاعدة البيانات: | BASE |
| DOI: | 10.3389/fped.2021.734300 |
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