Concurrent Newborn Hearing and Genetic Screening in a Multi-Ethnic Population in South China

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 screeni...

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Autores principales:	Xiangrong Tang, Lihua Liu, Sulan Liang, Meie Liang, Tao Liao, Shiqiang Luo, Tizhen Yan, Jianping Chen
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	newborn hearing loss hearing screening limited genetic screening multi-ethnic population Pediatrics RJ1-570
Acceso en línea:	https://doaj.org/article/d2764be961b3414bb17e3ecac45afb25
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spelling	oai:doaj.org-article:d2764be961b3414bb17e3ecac45afb252021-12-01T18:33:22ZConcurrent Newborn Hearing and Genetic Screening in a Multi-Ethnic Population in South China2296-236010.3389/fped.2021.734300https://doaj.org/article/d2764be961b3414bb17e3ecac45afb252021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fped.2021.734300/fullhttps://doaj.org/toc/2296-2360Hearing 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.Xiangrong TangLihua LiuSulan LiangMeie LiangTao LiaoShiqiang LuoTizhen YanJianping ChenFrontiers Media S.A.articlenewbornhearing losshearing screeninglimited genetic screeningmulti-ethnic populationPediatricsRJ1-570ENFrontiers in Pediatrics, Vol 9 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	newborn hearing loss hearing screening limited genetic screening multi-ethnic population Pediatrics RJ1-570
spellingShingle	newborn hearing loss hearing screening limited genetic screening multi-ethnic population Pediatrics RJ1-570 Xiangrong Tang Lihua Liu Sulan Liang Meie Liang Tao Liao Shiqiang Luo Tizhen Yan Jianping Chen Concurrent Newborn Hearing and Genetic Screening in a Multi-Ethnic Population in South China
description	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.
format	article
author	Xiangrong Tang Lihua Liu Sulan Liang Meie Liang Tao Liao Shiqiang Luo Tizhen Yan Jianping Chen
author_facet	Xiangrong Tang Lihua Liu Sulan Liang Meie Liang Tao Liao Shiqiang Luo Tizhen Yan Jianping Chen
author_sort	Xiangrong Tang
title	Concurrent Newborn Hearing and Genetic Screening in a Multi-Ethnic Population in South China
title_short	Concurrent Newborn Hearing and Genetic Screening in a Multi-Ethnic Population in South China
title_full	Concurrent Newborn Hearing and Genetic Screening in a Multi-Ethnic Population in South China
title_fullStr	Concurrent Newborn Hearing and Genetic Screening in a Multi-Ethnic Population in South China
title_full_unstemmed	Concurrent Newborn Hearing and Genetic Screening in a Multi-Ethnic Population in South China
title_sort	concurrent newborn hearing and genetic screening in a multi-ethnic population in south china
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/d2764be961b3414bb17e3ecac45afb25
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Concurrent Newborn Hearing and Genetic Screening in a Multi-Ethnic Population in South China

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