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A pediatric case of productive cough caused by novel variants in DNAH9
We report the first Japanese case of primary ciliary dyskinesia caused by DNAH9 variations. The patient, a 5-year-old girl, had repeated episodes of productive cough after contracting the common cold at the age of 1 year and 6 months. She did not have a situs abnormality or congenital heart defect....
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Published in: | Human genome variation 2021-01, Vol.8 (1), p.3-3, Article 3 |
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container_issue | 1 |
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container_title | Human genome variation |
container_volume | 8 |
creator | Takeuchi, Kazuhiko Xu, Yifei Ogawa, Satoru Ikejiri, Makoto Nakatani, Kaname Gotoh, Shimpei Usui, Satoko Masuda, Sawako Nagao, Mizuho Fujisawa, Takao |
description | We report the first Japanese case of primary ciliary dyskinesia caused by
DNAH9
variations. The patient, a 5-year-old girl, had repeated episodes of productive cough after contracting the common cold at the age of 1 year and 6 months. She did not have a situs abnormality or congenital heart defect. We identified two novel
DNAH9
variants, NM_001372.3: c. [1298C>G];[5547_5550delTGAC], (p.[Ser433Cys];[Asp1850fs]). |
doi_str_mv | 10.1038/s41439-020-00134-6 |
format | article |
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DNAH9
variations. The patient, a 5-year-old girl, had repeated episodes of productive cough after contracting the common cold at the age of 1 year and 6 months. She did not have a situs abnormality or congenital heart defect. We identified two novel
DNAH9
variants, NM_001372.3: c. [1298C>G];[5547_5550delTGAC], (p.[Ser433Cys];[Asp1850fs]).</description><identifier>ISSN: 2054-345X</identifier><identifier>EISSN: 2054-345X</identifier><identifier>DOI: 10.1038/s41439-020-00134-6</identifier><identifier>PMID: 33452233</identifier><language>eng</language><publisher>London: Nature Publishing Group UK</publisher><subject>631/208/212/2301 ; 692/699/1785 ; Asthma ; Biomedical and Life Sciences ; Biomedicine ; Biopsy ; Common cold ; Cough ; Data Report ; Dyskinesia ; Eardrum ; Gene Expression ; Gene Function ; Gene Therapy ; Genomes ; Hospitals ; Human Genetics ; Medicine ; Microscopy ; Molecular Medicine ; Mutation ; Nose ; Otolaryngology ; Patients ; Pediatrics ; Primary ciliary dyskinesia ; Sinusitis ; University graduates</subject><ispartof>Human genome variation, 2021-01, Vol.8 (1), p.3-3, Article 3</ispartof><rights>The Author(s) 2021</rights><rights>The Author(s) 2021. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c702t-fd6706f159bc67fc59746c23225d4f473ac93b5388d32d721f361d2d732c468d3</citedby><cites>FETCH-LOGICAL-c702t-fd6706f159bc67fc59746c23225d4f473ac93b5388d32d721f361d2d732c468d3</cites><orcidid>0000-0001-6855-6425</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.proquest.com/docview/2478164578/fulltextPDF?pq-origsite=primo$$EPDF$$P50$$Gproquest$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.proquest.com/docview/2478164578?pq-origsite=primo$$EHTML$$P50$$Gproquest$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,25752,27923,27924,37011,37012,44589,53790,53792,74897</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/33452233$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Takeuchi, Kazuhiko</creatorcontrib><creatorcontrib>Xu, Yifei</creatorcontrib><creatorcontrib>Ogawa, Satoru</creatorcontrib><creatorcontrib>Ikejiri, Makoto</creatorcontrib><creatorcontrib>Nakatani, Kaname</creatorcontrib><creatorcontrib>Gotoh, Shimpei</creatorcontrib><creatorcontrib>Usui, Satoko</creatorcontrib><creatorcontrib>Masuda, Sawako</creatorcontrib><creatorcontrib>Nagao, Mizuho</creatorcontrib><creatorcontrib>Fujisawa, Takao</creatorcontrib><title>A pediatric case of productive cough caused by novel variants in DNAH9</title><title>Human genome variation</title><addtitle>Hum Genome Var</addtitle><addtitle>Hum Genome Var</addtitle><description>We report the first Japanese case of primary ciliary dyskinesia caused by
DNAH9
variations. The patient, a 5-year-old girl, had repeated episodes of productive cough after contracting the common cold at the age of 1 year and 6 months. She did not have a situs abnormality or congenital heart defect. We identified two novel
DNAH9
variants, NM_001372.3: c. 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Xu, Yifei ; Ogawa, Satoru ; Ikejiri, Makoto ; Nakatani, Kaname ; Gotoh, Shimpei ; Usui, Satoko ; Masuda, Sawako ; Nagao, Mizuho ; Fujisawa, Takao</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c702t-fd6706f159bc67fc59746c23225d4f473ac93b5388d32d721f361d2d732c468d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>631/208/212/2301</topic><topic>692/699/1785</topic><topic>Asthma</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Biopsy</topic><topic>Common cold</topic><topic>Cough</topic><topic>Data Report</topic><topic>Dyskinesia</topic><topic>Eardrum</topic><topic>Gene Expression</topic><topic>Gene Function</topic><topic>Gene Therapy</topic><topic>Genomes</topic><topic>Hospitals</topic><topic>Human Genetics</topic><topic>Medicine</topic><topic>Microscopy</topic><topic>Molecular Medicine</topic><topic>Mutation</topic><topic>Nose</topic><topic>Otolaryngology</topic><topic>Patients</topic><topic>Pediatrics</topic><topic>Primary ciliary dyskinesia</topic><topic>Sinusitis</topic><topic>University graduates</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Takeuchi, Kazuhiko</creatorcontrib><creatorcontrib>Xu, Yifei</creatorcontrib><creatorcontrib>Ogawa, Satoru</creatorcontrib><creatorcontrib>Ikejiri, Makoto</creatorcontrib><creatorcontrib>Nakatani, Kaname</creatorcontrib><creatorcontrib>Gotoh, Shimpei</creatorcontrib><creatorcontrib>Usui, Satoko</creatorcontrib><creatorcontrib>Masuda, Sawako</creatorcontrib><creatorcontrib>Nagao, Mizuho</creatorcontrib><creatorcontrib>Fujisawa, Takao</creatorcontrib><collection>SpringerOpen</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Human Genome Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Publicly Available Content Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><collection>DOAJ Directory of Open Access Journals</collection><jtitle>Human genome variation</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Takeuchi, Kazuhiko</au><au>Xu, Yifei</au><au>Ogawa, Satoru</au><au>Ikejiri, Makoto</au><au>Nakatani, Kaname</au><au>Gotoh, Shimpei</au><au>Usui, Satoko</au><au>Masuda, Sawako</au><au>Nagao, Mizuho</au><au>Fujisawa, Takao</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A pediatric case of productive cough caused by novel variants in DNAH9</atitle><jtitle>Human genome variation</jtitle><stitle>Hum Genome Var</stitle><addtitle>Hum Genome Var</addtitle><date>2021-01-15</date><risdate>2021</risdate><volume>8</volume><issue>1</issue><spage>3</spage><epage>3</epage><pages>3-3</pages><artnum>3</artnum><issn>2054-345X</issn><eissn>2054-345X</eissn><abstract>We report the first Japanese case of primary ciliary dyskinesia caused by
DNAH9
variations. The patient, a 5-year-old girl, had repeated episodes of productive cough after contracting the common cold at the age of 1 year and 6 months. She did not have a situs abnormality or congenital heart defect. We identified two novel
DNAH9
variants, NM_001372.3: c. [1298C>G];[5547_5550delTGAC], (p.[Ser433Cys];[Asp1850fs]).</abstract><cop>London</cop><pub>Nature Publishing Group UK</pub><pmid>33452233</pmid><doi>10.1038/s41439-020-00134-6</doi><tpages>1</tpages><orcidid>https://orcid.org/0000-0001-6855-6425</orcidid><oa>free_for_read</oa></addata></record> |
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subjects | 631/208/212/2301 692/699/1785 Asthma Biomedical and Life Sciences Biomedicine Biopsy Common cold Cough Data Report Dyskinesia Eardrum Gene Expression Gene Function Gene Therapy Genomes Hospitals Human Genetics Medicine Microscopy Molecular Medicine Mutation Nose Otolaryngology Patients Pediatrics Primary ciliary dyskinesia Sinusitis University graduates |
title | A pediatric case of productive cough caused by novel variants in DNAH9 |
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