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Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia

BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare, highly heterogeneous genetic disorder involving the impairment of motile cilia. With no single gold standard for PCD diagnosis and complicated multiorgan dysfunction, the diagnosis of PCD can be difficult in clinical settings. Some methods for...

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Autores principales: Zhao, Xinyue, Bian, Chun, Liu, Keqiang, Xu, Wenshuai, Liu, Yaping, Tian, Xinlun, Bai, Jing, Xu, Kai-Feng, Zhang, Xue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8252271/
https://www.ncbi.nlm.nih.gov/pubmed/34210339
http://dx.doi.org/10.1186/s13023-021-01840-2
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author Zhao, Xinyue
Bian, Chun
Liu, Keqiang
Xu, Wenshuai
Liu, Yaping
Tian, Xinlun
Bai, Jing
Xu, Kai-Feng
Zhang, Xue
author_facet Zhao, Xinyue
Bian, Chun
Liu, Keqiang
Xu, Wenshuai
Liu, Yaping
Tian, Xinlun
Bai, Jing
Xu, Kai-Feng
Zhang, Xue
author_sort Zhao, Xinyue
collection PubMed
description BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare, highly heterogeneous genetic disorder involving the impairment of motile cilia. With no single gold standard for PCD diagnosis and complicated multiorgan dysfunction, the diagnosis of PCD can be difficult in clinical settings. Some methods for diagnosis, such as nasal nitric oxide measurement and digital high-speed video microscopy with ciliary beat pattern analysis, can be expensive or unavailable. To confirm PCD diagnosis, we used a strategy combining assessment of typical symptoms with whole-exome sequencing (WES) and/or low-pass whole-genome sequencing (WGS) as an unbiased detection tool to identify known pathogenic mutations, novel variations, and copy number variations. RESULTS: A total of 26 individuals of Chinese origin with a confirmed PCD diagnosis aged 13 to 61 years (median age, 24.5 years) were included. Biallelic pathogenic mutations were identified in 19 of the 26 patients, including 8 recorded HGMD mutations and 24 novel mutations. The detection rate reached 73.1%. DNAH5 was the most frequently mutated gene, and c.8383C > T was the most common mutated variant, but it is relatively rare in PCD patients from other ethnic groups. CONCLUSION: This study demonstrates the practical clinical utility of combining WES and low-pass WGS as a no-bias detecting tool in adult patients with PCD, showing a clinical characteristics and genetic spectrum of Chinese PCD patients. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13023-021-01840-2.
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spelling pubmed-82522712021-07-06 Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia Zhao, Xinyue Bian, Chun Liu, Keqiang Xu, Wenshuai Liu, Yaping Tian, Xinlun Bai, Jing Xu, Kai-Feng Zhang, Xue Orphanet J Rare Dis Research BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare, highly heterogeneous genetic disorder involving the impairment of motile cilia. With no single gold standard for PCD diagnosis and complicated multiorgan dysfunction, the diagnosis of PCD can be difficult in clinical settings. Some methods for diagnosis, such as nasal nitric oxide measurement and digital high-speed video microscopy with ciliary beat pattern analysis, can be expensive or unavailable. To confirm PCD diagnosis, we used a strategy combining assessment of typical symptoms with whole-exome sequencing (WES) and/or low-pass whole-genome sequencing (WGS) as an unbiased detection tool to identify known pathogenic mutations, novel variations, and copy number variations. RESULTS: A total of 26 individuals of Chinese origin with a confirmed PCD diagnosis aged 13 to 61 years (median age, 24.5 years) were included. Biallelic pathogenic mutations were identified in 19 of the 26 patients, including 8 recorded HGMD mutations and 24 novel mutations. The detection rate reached 73.1%. DNAH5 was the most frequently mutated gene, and c.8383C > T was the most common mutated variant, but it is relatively rare in PCD patients from other ethnic groups. CONCLUSION: This study demonstrates the practical clinical utility of combining WES and low-pass WGS as a no-bias detecting tool in adult patients with PCD, showing a clinical characteristics and genetic spectrum of Chinese PCD patients. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13023-021-01840-2. BioMed Central 2021-07-01 /pmc/articles/PMC8252271/ /pubmed/34210339 http://dx.doi.org/10.1186/s13023-021-01840-2 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Research
Zhao, Xinyue
Bian, Chun
Liu, Keqiang
Xu, Wenshuai
Liu, Yaping
Tian, Xinlun
Bai, Jing
Xu, Kai-Feng
Zhang, Xue
Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia
title Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia
title_full Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia
title_fullStr Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia
title_full_unstemmed Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia
title_short Clinical characteristics and genetic spectrum of 26 individuals of Chinese origin with primary ciliary dyskinesia
title_sort clinical characteristics and genetic spectrum of 26 individuals of chinese origin with primary ciliary dyskinesia
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8252271/
https://www.ncbi.nlm.nih.gov/pubmed/34210339
http://dx.doi.org/10.1186/s13023-021-01840-2
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