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Case Report: Identification of a Novel ODAD3 Variant in a Patient With Primary Ciliary Dyskinesia
Background: ODAD3 encodes a protein of 595 amino acids and contain three highly conserved coiled-coil domains, which is essential for cilia axoneme dynein arm assembly and docking. Primary ciliary dyskinesia (PCD) of ODAD3 deficiency are rarely reported. Female infertility in PCD related to ODAD3 va...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7953140/ https://www.ncbi.nlm.nih.gov/pubmed/33719352 http://dx.doi.org/10.3389/fgene.2021.652381 |
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author | Wang, Rongchun Yang, Danhui Guo, Ting Lei, Cheng Chen, Xu Kang, Xi Qing, Jie Luo, Hong |
author_facet | Wang, Rongchun Yang, Danhui Guo, Ting Lei, Cheng Chen, Xu Kang, Xi Qing, Jie Luo, Hong |
author_sort | Wang, Rongchun |
collection | PubMed |
description | Background: ODAD3 encodes a protein of 595 amino acids and contain three highly conserved coiled-coil domains, which is essential for cilia axoneme dynein arm assembly and docking. Primary ciliary dyskinesia (PCD) of ODAD3 deficiency are rarely reported. Female infertility in PCD related to ODAD3 variants has not been reported. Methods: Whole-exome and Sanger sequencing were used to identify the disease-related gene of the patient with PCD in a consanguineous Chinese family. Domain analysis was applied to predict the impact of the variant on ODAD3 protein. Results: The 35 year-old female patient exhibited chronic sinusitis, diffuse bronchiectasis, dextrocardia and infertility. We identified a novel homozygous variant in ODAD3, c.1166_1169dupAGAC, p.(Leu391Aspfs(*)105) in the PCD patient by exome sequencing and Sanger sequencing. This frameshift variant was predicted to be disease causing by bioinformatics analysis and was also not presented in the current authorized large genetic databases. Conclusions: Our study enriches the genetic spectrum and clinical phenotypes of ODAD3 variants in PCD and provide more evidence for future genetic counseling and gene-targeted therapy for this disease. |
format | Online Article Text |
id | pubmed-7953140 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-79531402021-03-13 Case Report: Identification of a Novel ODAD3 Variant in a Patient With Primary Ciliary Dyskinesia Wang, Rongchun Yang, Danhui Guo, Ting Lei, Cheng Chen, Xu Kang, Xi Qing, Jie Luo, Hong Front Genet Genetics Background: ODAD3 encodes a protein of 595 amino acids and contain three highly conserved coiled-coil domains, which is essential for cilia axoneme dynein arm assembly and docking. Primary ciliary dyskinesia (PCD) of ODAD3 deficiency are rarely reported. Female infertility in PCD related to ODAD3 variants has not been reported. Methods: Whole-exome and Sanger sequencing were used to identify the disease-related gene of the patient with PCD in a consanguineous Chinese family. Domain analysis was applied to predict the impact of the variant on ODAD3 protein. Results: The 35 year-old female patient exhibited chronic sinusitis, diffuse bronchiectasis, dextrocardia and infertility. We identified a novel homozygous variant in ODAD3, c.1166_1169dupAGAC, p.(Leu391Aspfs(*)105) in the PCD patient by exome sequencing and Sanger sequencing. This frameshift variant was predicted to be disease causing by bioinformatics analysis and was also not presented in the current authorized large genetic databases. Conclusions: Our study enriches the genetic spectrum and clinical phenotypes of ODAD3 variants in PCD and provide more evidence for future genetic counseling and gene-targeted therapy for this disease. Frontiers Media S.A. 2021-02-26 /pmc/articles/PMC7953140/ /pubmed/33719352 http://dx.doi.org/10.3389/fgene.2021.652381 Text en Copyright © 2021 Wang, Yang, Guo, Lei, Chen, Kang, Qing and Luo. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Genetics Wang, Rongchun Yang, Danhui Guo, Ting Lei, Cheng Chen, Xu Kang, Xi Qing, Jie Luo, Hong Case Report: Identification of a Novel ODAD3 Variant in a Patient With Primary Ciliary Dyskinesia |
title | Case Report: Identification of a Novel ODAD3 Variant in a Patient With Primary Ciliary Dyskinesia |
title_full | Case Report: Identification of a Novel ODAD3 Variant in a Patient With Primary Ciliary Dyskinesia |
title_fullStr | Case Report: Identification of a Novel ODAD3 Variant in a Patient With Primary Ciliary Dyskinesia |
title_full_unstemmed | Case Report: Identification of a Novel ODAD3 Variant in a Patient With Primary Ciliary Dyskinesia |
title_short | Case Report: Identification of a Novel ODAD3 Variant in a Patient With Primary Ciliary Dyskinesia |
title_sort | case report: identification of a novel odad3 variant in a patient with primary ciliary dyskinesia |
topic | Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7953140/ https://www.ncbi.nlm.nih.gov/pubmed/33719352 http://dx.doi.org/10.3389/fgene.2021.652381 |
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