Molecular diagnosis of non-syndromic hearing loss patients using a stepwise approach

Abstract Hearing loss is one of the most common birth disorders in humans, with an estimated prevalence of 1–3 in every 1000 newborns. This study investigates the molecular etiology of a hearing loss cohort using a stepwise strategy to effectively diagnose patients and address the challenges posed b...

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Autores principales:	Jing Wang, Jiale Xiang, Lisha Chen, Hongyu Luo, Xiuhua Xu, Nan Li, Chunming Cui, Jingjing Xu, Nana Song, Jiguang Peng, Zhiyu Peng
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/5afb01c858dc4465ac1c61be42c42571
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spelling	oai:doaj.org-article:5afb01c858dc4465ac1c61be42c425712021-12-02T14:03:45ZMolecular diagnosis of non-syndromic hearing loss patients using a stepwise approach10.1038/s41598-021-83493-62045-2322https://doaj.org/article/5afb01c858dc4465ac1c61be42c425712021-02-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-83493-6https://doaj.org/toc/2045-2322Abstract Hearing loss is one of the most common birth disorders in humans, with an estimated prevalence of 1–3 in every 1000 newborns. This study investigates the molecular etiology of a hearing loss cohort using a stepwise strategy to effectively diagnose patients and address the challenges posed by the genetic heterogeneity and variable mutation spectrum of hearing loss. In order to target known pathogenic variants, multiplex PCR plus next-generation sequencing was applied in the first step; patients which did not receive a diagnosis from this were further referred for exome sequencing. A total of 92 unrelated patients with nonsyndromic hearing loss were enrolled in the study. In total, 64% (59/92) of the patients were molecularly diagnosed, 44 of them in the first step by multiplex PCR plus sequencing. Exome sequencing resulted in eleven diagnoses (23%, 11/48) and four probable diagnoses (8%, 4/48) among the 48 patients who were not diagnosed in the first step. The rate of secondary findings from exome sequencing in our cohort was 3% (2/58). This research presents a molecular diagnosis spectrum of 92 non-syndromic hearing loss patients and demonstrates the benefits of using a stepwise diagnostic approach in the genetic testing of nonsyndromic hearing loss.Jing WangJiale XiangLisha ChenHongyu LuoXiuhua XuNan LiChunming CuiJingjing XuNana SongJiguang PengZhiyu PengNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Jing Wang Jiale Xiang Lisha Chen Hongyu Luo Xiuhua Xu Nan Li Chunming Cui Jingjing Xu Nana Song Jiguang Peng Zhiyu Peng Molecular diagnosis of non-syndromic hearing loss patients using a stepwise approach
description	Abstract Hearing loss is one of the most common birth disorders in humans, with an estimated prevalence of 1–3 in every 1000 newborns. This study investigates the molecular etiology of a hearing loss cohort using a stepwise strategy to effectively diagnose patients and address the challenges posed by the genetic heterogeneity and variable mutation spectrum of hearing loss. In order to target known pathogenic variants, multiplex PCR plus next-generation sequencing was applied in the first step; patients which did not receive a diagnosis from this were further referred for exome sequencing. A total of 92 unrelated patients with nonsyndromic hearing loss were enrolled in the study. In total, 64% (59/92) of the patients were molecularly diagnosed, 44 of them in the first step by multiplex PCR plus sequencing. Exome sequencing resulted in eleven diagnoses (23%, 11/48) and four probable diagnoses (8%, 4/48) among the 48 patients who were not diagnosed in the first step. The rate of secondary findings from exome sequencing in our cohort was 3% (2/58). This research presents a molecular diagnosis spectrum of 92 non-syndromic hearing loss patients and demonstrates the benefits of using a stepwise diagnostic approach in the genetic testing of nonsyndromic hearing loss.
format	article
author	Jing Wang Jiale Xiang Lisha Chen Hongyu Luo Xiuhua Xu Nan Li Chunming Cui Jingjing Xu Nana Song Jiguang Peng Zhiyu Peng
author_facet	Jing Wang Jiale Xiang Lisha Chen Hongyu Luo Xiuhua Xu Nan Li Chunming Cui Jingjing Xu Nana Song Jiguang Peng Zhiyu Peng
author_sort	Jing Wang
title	Molecular diagnosis of non-syndromic hearing loss patients using a stepwise approach
title_short	Molecular diagnosis of non-syndromic hearing loss patients using a stepwise approach
title_full	Molecular diagnosis of non-syndromic hearing loss patients using a stepwise approach
title_fullStr	Molecular diagnosis of non-syndromic hearing loss patients using a stepwise approach
title_full_unstemmed	Molecular diagnosis of non-syndromic hearing loss patients using a stepwise approach
title_sort	molecular diagnosis of non-syndromic hearing loss patients using a stepwise approach
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/5afb01c858dc4465ac1c61be42c42571
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Molecular diagnosis of non-syndromic hearing loss patients using a stepwise approach

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