Clustering of Genetic Anomalies of Cilia Outer Dynein Arm and Central Apparatus in Patients with Transposition of the Great Arteries
Transposition of the great arteries (TGA) is a congenital heart defect with a complex pathogenesis that has not been fully elucidated. In this study, we performed whole-exome sequencing (WES) in isolated TGA-diagnosed patients and analyzed genes of motile and non-motile cilia ciliogenesis and ciliar...
Gespeichert in:
| Veröffentlicht in: | Genes 2022-09, Vol.13 (9), p.1662 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | |
|---|---|
| container_issue | 9 |
| container_start_page | 1662 |
| container_title | Genes |
| container_volume | 13 |
| creator | De Ita, Marlon Gaytán-Cervantes, Javier Cisneros, Bulmaro Araujo, María Antonieta Huicochea-Montiel, Juan Carlos Cárdenas-Conejo, Alan Lazo-Cárdenas, Charles César Ramírez-Portillo, César Iván Feria-Kaiser, Carina Peregrino-Bejarano, Leoncio Yáñez-Gutiérrez, Lucelli González-Torres, Carolina Rosas-Vargas, Haydeé |
| description | Transposition of the great arteries (TGA) is a congenital heart defect with a complex pathogenesis that has not been fully elucidated. In this study, we performed whole-exome sequencing (WES) in isolated TGA-diagnosed patients and analyzed genes of motile and non-motile cilia ciliogenesis and ciliary trafficking, as well as genes previously associated with this heart malformation. Deleterious missense and splicing variants of genes DNAH9, DNAH11, and ODAD4 of cilia outer dynein arm and central apparatus, HYDIN, were found in our TGA patients. Remarkable, there is a clustering of deleterious genetic variants in cilia genes, suggesting it could be an oligogenic disease. Our data evidence the genetic diversity and etiological complexity of TGA and point out that population allele determination and genetic aggregation studies are required to improve genetic counseling. |
| doi_str_mv | 10.3390/genes13091662 |
| format | Article |
| fullrecord | <record><control><sourceid>gale_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9498580</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><galeid>A745723158</galeid><sourcerecordid>A745723158</sourcerecordid><originalsourceid>FETCH-LOGICAL-c459t-b2d21a9a7ea91889922975da7dd93337080a384f3096e6241578dd9b6b8300203</originalsourceid><addsrcrecordid>eNptkk1v1DAQhiMEElXpkbslLlxS_BHH8QUpCrAgVSqHcrZmk8muq8QOtgPqvT8cR1sBi7APHs2884zHnqJ4zei1EJq-O6DDyATVrK75s-KCUyXKquLy-V_2y-IqxnuaV0U5pfKieOymNSYM1h2IH8kuU5LtSev8DJPFuDk7O1kgt2uWkQ8PDq0jbZgJuIF06FKAibTLAgHSGkkOfoVksz-SnzYdyV0AFxcfbbLebbh0RLILCClTtsoYXxUvRpgiXj2dl8W3Tx_vus_lze3uS9felH0ldSr3fOAMNCgEzZpGa861kgOoYdBCCEUbCqKpxvwINda8YlI1ObSv942guV9xWbw_cZd1P-PQny5vlmBnCA_GgzXnEWeP5uB_GF3pRjYb4O0TIPjvK8ZkZht7nCZw6NdouGKq1pQLlqVv_pHe-zW43N6mqmWVP0H9UR1gQmPd6HPdfoOaVlVSZZJssur6P6q8B5xt7x2ONvvPEspTQh98jAHH3z0yarZxMWfjIn4BnbWyUw</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2716540007</pqid></control><display><type>article</type><title>Clustering of Genetic Anomalies of Cilia Outer Dynein Arm and Central Apparatus in Patients with Transposition of the Great Arteries</title><source>MDPI - Multidisciplinary Digital Publishing Institute</source><source>EZB-FREE-00999 freely available EZB journals</source><source>PubMed Central</source><source>PubMed Central Open Access</source><creator>De Ita, Marlon ; Gaytán-Cervantes, Javier ; Cisneros, Bulmaro ; Araujo, María Antonieta ; Huicochea-Montiel, Juan Carlos ; Cárdenas-Conejo, Alan ; Lazo-Cárdenas, Charles César ; Ramírez-Portillo, César Iván ; Feria-Kaiser, Carina ; Peregrino-Bejarano, Leoncio ; Yáñez-Gutiérrez, Lucelli ; González-Torres, Carolina ; Rosas-Vargas, Haydeé</creator><creatorcontrib>De Ita, Marlon ; Gaytán-Cervantes, Javier ; Cisneros, Bulmaro ; Araujo, María Antonieta ; Huicochea-Montiel, Juan Carlos ; Cárdenas-Conejo, Alan ; Lazo-Cárdenas, Charles César ; Ramírez-Portillo, César Iván ; Feria-Kaiser, Carina ; Peregrino-Bejarano, Leoncio ; Yáñez-Gutiérrez, Lucelli ; González-Torres, Carolina ; Rosas-Vargas, Haydeé</creatorcontrib><description>Transposition of the great arteries (TGA) is a congenital heart defect with a complex pathogenesis that has not been fully elucidated. In this study, we performed whole-exome sequencing (WES) in isolated TGA-diagnosed patients and analyzed genes of motile and non-motile cilia ciliogenesis and ciliary trafficking, as well as genes previously associated with this heart malformation. Deleterious missense and splicing variants of genes DNAH9, DNAH11, and ODAD4 of cilia outer dynein arm and central apparatus, HYDIN, were found in our TGA patients. Remarkable, there is a clustering of deleterious genetic variants in cilia genes, suggesting it could be an oligogenic disease. Our data evidence the genetic diversity and etiological complexity of TGA and point out that population allele determination and genetic aggregation studies are required to improve genetic counseling.</description><identifier>ISSN: 2073-4425</identifier><identifier>EISSN: 2073-4425</identifier><identifier>DOI: 10.3390/genes13091662</identifier><language>eng</language><publisher>Basel: MDPI AG</publisher><subject>Arteries ; Cardiovascular disease ; Causes of ; Cilia ; Cilia and ciliary motion ; Clustering ; Congenital diseases ; Consent ; DNA sequencing ; Dynein ; Etiology ; Gene expression ; Genetic aspects ; Genetic counseling ; Genetic diversity ; Genomes ; Heart ; Medical genetics ; Methods ; Mutation ; Nucleotide sequencing ; Pathogenesis ; Pediatrics ; Population genetics ; Software ; Transposition ; Transposition of great arteries ; Veins & arteries</subject><ispartof>Genes, 2022-09, Vol.13 (9), p.1662</ispartof><rights>COPYRIGHT 2022 MDPI AG</rights><rights>2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2022 by the authors. 2022</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c459t-b2d21a9a7ea91889922975da7dd93337080a384f3096e6241578dd9b6b8300203</citedby><cites>FETCH-LOGICAL-c459t-b2d21a9a7ea91889922975da7dd93337080a384f3096e6241578dd9b6b8300203</cites><orcidid>0000-0002-8305-4279 ; 0000-0003-0635-8284</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC9498580/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC9498580/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,881,27901,27902,53766,53768</link.rule.ids></links><search><creatorcontrib>De Ita, Marlon</creatorcontrib><creatorcontrib>Gaytán-Cervantes, Javier</creatorcontrib><creatorcontrib>Cisneros, Bulmaro</creatorcontrib><creatorcontrib>Araujo, María Antonieta</creatorcontrib><creatorcontrib>Huicochea-Montiel, Juan Carlos</creatorcontrib><creatorcontrib>Cárdenas-Conejo, Alan</creatorcontrib><creatorcontrib>Lazo-Cárdenas, Charles César</creatorcontrib><creatorcontrib>Ramírez-Portillo, César Iván</creatorcontrib><creatorcontrib>Feria-Kaiser, Carina</creatorcontrib><creatorcontrib>Peregrino-Bejarano, Leoncio</creatorcontrib><creatorcontrib>Yáñez-Gutiérrez, Lucelli</creatorcontrib><creatorcontrib>González-Torres, Carolina</creatorcontrib><creatorcontrib>Rosas-Vargas, Haydeé</creatorcontrib><title>Clustering of Genetic Anomalies of Cilia Outer Dynein Arm and Central Apparatus in Patients with Transposition of the Great Arteries</title><title>Genes</title><description>Transposition of the great arteries (TGA) is a congenital heart defect with a complex pathogenesis that has not been fully elucidated. In this study, we performed whole-exome sequencing (WES) in isolated TGA-diagnosed patients and analyzed genes of motile and non-motile cilia ciliogenesis and ciliary trafficking, as well as genes previously associated with this heart malformation. Deleterious missense and splicing variants of genes DNAH9, DNAH11, and ODAD4 of cilia outer dynein arm and central apparatus, HYDIN, were found in our TGA patients. Remarkable, there is a clustering of deleterious genetic variants in cilia genes, suggesting it could be an oligogenic disease. Our data evidence the genetic diversity and etiological complexity of TGA and point out that population allele determination and genetic aggregation studies are required to improve genetic counseling.</description><subject>Arteries</subject><subject>Cardiovascular disease</subject><subject>Causes of</subject><subject>Cilia</subject><subject>Cilia and ciliary motion</subject><subject>Clustering</subject><subject>Congenital diseases</subject><subject>Consent</subject><subject>DNA sequencing</subject><subject>Dynein</subject><subject>Etiology</subject><subject>Gene expression</subject><subject>Genetic aspects</subject><subject>Genetic counseling</subject><subject>Genetic diversity</subject><subject>Genomes</subject><subject>Heart</subject><subject>Medical genetics</subject><subject>Methods</subject><subject>Mutation</subject><subject>Nucleotide sequencing</subject><subject>Pathogenesis</subject><subject>Pediatrics</subject><subject>Population genetics</subject><subject>Software</subject><subject>Transposition</subject><subject>Transposition of great arteries</subject><subject>Veins & arteries</subject><issn>2073-4425</issn><issn>2073-4425</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><sourceid>BENPR</sourceid><recordid>eNptkk1v1DAQhiMEElXpkbslLlxS_BHH8QUpCrAgVSqHcrZmk8muq8QOtgPqvT8cR1sBi7APHs2884zHnqJ4zei1EJq-O6DDyATVrK75s-KCUyXKquLy-V_2y-IqxnuaV0U5pfKieOymNSYM1h2IH8kuU5LtSev8DJPFuDk7O1kgt2uWkQ8PDq0jbZgJuIF06FKAibTLAgHSGkkOfoVksz-SnzYdyV0AFxcfbbLebbh0RLILCClTtsoYXxUvRpgiXj2dl8W3Tx_vus_lze3uS9felH0ldSr3fOAMNCgEzZpGa861kgOoYdBCCEUbCqKpxvwINda8YlI1ObSv942guV9xWbw_cZd1P-PQny5vlmBnCA_GgzXnEWeP5uB_GF3pRjYb4O0TIPjvK8ZkZht7nCZw6NdouGKq1pQLlqVv_pHe-zW43N6mqmWVP0H9UR1gQmPd6HPdfoOaVlVSZZJssur6P6q8B5xt7x2ONvvPEspTQh98jAHH3z0yarZxMWfjIn4BnbWyUw</recordid><startdate>20220901</startdate><enddate>20220901</enddate><creator>De Ita, Marlon</creator><creator>Gaytán-Cervantes, Javier</creator><creator>Cisneros, Bulmaro</creator><creator>Araujo, María Antonieta</creator><creator>Huicochea-Montiel, Juan Carlos</creator><creator>Cárdenas-Conejo, Alan</creator><creator>Lazo-Cárdenas, Charles César</creator><creator>Ramírez-Portillo, César Iván</creator><creator>Feria-Kaiser, Carina</creator><creator>Peregrino-Bejarano, Leoncio</creator><creator>Yáñez-Gutiérrez, Lucelli</creator><creator>González-Torres, Carolina</creator><creator>Rosas-Vargas, Haydeé</creator><general>MDPI AG</general><general>MDPI</general><scope>AAYXX</scope><scope>CITATION</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>LK8</scope><scope>M7P</scope><scope>P64</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0002-8305-4279</orcidid><orcidid>https://orcid.org/0000-0003-0635-8284</orcidid></search><sort><creationdate>20220901</creationdate><title>Clustering of Genetic Anomalies of Cilia Outer Dynein Arm and Central Apparatus in Patients with Transposition of the Great Arteries</title><author>De Ita, Marlon ; Gaytán-Cervantes, Javier ; Cisneros, Bulmaro ; Araujo, María Antonieta ; Huicochea-Montiel, Juan Carlos ; Cárdenas-Conejo, Alan ; Lazo-Cárdenas, Charles César ; Ramírez-Portillo, César Iván ; Feria-Kaiser, Carina ; Peregrino-Bejarano, Leoncio ; Yáñez-Gutiérrez, Lucelli ; González-Torres, Carolina ; Rosas-Vargas, Haydeé</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c459t-b2d21a9a7ea91889922975da7dd93337080a384f3096e6241578dd9b6b8300203</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2022</creationdate><topic>Arteries</topic><topic>Cardiovascular disease</topic><topic>Causes of</topic><topic>Cilia</topic><topic>Cilia and ciliary motion</topic><topic>Clustering</topic><topic>Congenital diseases</topic><topic>Consent</topic><topic>DNA sequencing</topic><topic>Dynein</topic><topic>Etiology</topic><topic>Gene expression</topic><topic>Genetic aspects</topic><topic>Genetic counseling</topic><topic>Genetic diversity</topic><topic>Genomes</topic><topic>Heart</topic><topic>Medical genetics</topic><topic>Methods</topic><topic>Mutation</topic><topic>Nucleotide sequencing</topic><topic>Pathogenesis</topic><topic>Pediatrics</topic><topic>Population genetics</topic><topic>Software</topic><topic>Transposition</topic><topic>Transposition of great arteries</topic><topic>Veins & arteries</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>De Ita, Marlon</creatorcontrib><creatorcontrib>Gaytán-Cervantes, Javier</creatorcontrib><creatorcontrib>Cisneros, Bulmaro</creatorcontrib><creatorcontrib>Araujo, María Antonieta</creatorcontrib><creatorcontrib>Huicochea-Montiel, Juan Carlos</creatorcontrib><creatorcontrib>Cárdenas-Conejo, Alan</creatorcontrib><creatorcontrib>Lazo-Cárdenas, Charles César</creatorcontrib><creatorcontrib>Ramírez-Portillo, César Iván</creatorcontrib><creatorcontrib>Feria-Kaiser, Carina</creatorcontrib><creatorcontrib>Peregrino-Bejarano, Leoncio</creatorcontrib><creatorcontrib>Yáñez-Gutiérrez, Lucelli</creatorcontrib><creatorcontrib>González-Torres, Carolina</creatorcontrib><creatorcontrib>Rosas-Vargas, Haydeé</creatorcontrib><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</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>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Biological Science Collection</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>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Genes</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>De Ita, Marlon</au><au>Gaytán-Cervantes, Javier</au><au>Cisneros, Bulmaro</au><au>Araujo, María Antonieta</au><au>Huicochea-Montiel, Juan Carlos</au><au>Cárdenas-Conejo, Alan</au><au>Lazo-Cárdenas, Charles César</au><au>Ramírez-Portillo, César Iván</au><au>Feria-Kaiser, Carina</au><au>Peregrino-Bejarano, Leoncio</au><au>Yáñez-Gutiérrez, Lucelli</au><au>González-Torres, Carolina</au><au>Rosas-Vargas, Haydeé</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Clustering of Genetic Anomalies of Cilia Outer Dynein Arm and Central Apparatus in Patients with Transposition of the Great Arteries</atitle><jtitle>Genes</jtitle><date>2022-09-01</date><risdate>2022</risdate><volume>13</volume><issue>9</issue><spage>1662</spage><pages>1662-</pages><issn>2073-4425</issn><eissn>2073-4425</eissn><abstract>Transposition of the great arteries (TGA) is a congenital heart defect with a complex pathogenesis that has not been fully elucidated. In this study, we performed whole-exome sequencing (WES) in isolated TGA-diagnosed patients and analyzed genes of motile and non-motile cilia ciliogenesis and ciliary trafficking, as well as genes previously associated with this heart malformation. Deleterious missense and splicing variants of genes DNAH9, DNAH11, and ODAD4 of cilia outer dynein arm and central apparatus, HYDIN, were found in our TGA patients. Remarkable, there is a clustering of deleterious genetic variants in cilia genes, suggesting it could be an oligogenic disease. Our data evidence the genetic diversity and etiological complexity of TGA and point out that population allele determination and genetic aggregation studies are required to improve genetic counseling.</abstract><cop>Basel</cop><pub>MDPI AG</pub><doi>10.3390/genes13091662</doi><orcidid>https://orcid.org/0000-0002-8305-4279</orcidid><orcidid>https://orcid.org/0000-0003-0635-8284</orcidid><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 2073-4425 |
| ispartof | Genes, 2022-09, Vol.13 (9), p.1662 |
| issn | 2073-4425 2073-4425 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9498580 |
| source | MDPI - Multidisciplinary Digital Publishing Institute; EZB-FREE-00999 freely available EZB journals; PubMed Central; PubMed Central Open Access |
| subjects | Arteries Cardiovascular disease Causes of Cilia Cilia and ciliary motion Clustering Congenital diseases Consent DNA sequencing Dynein Etiology Gene expression Genetic aspects Genetic counseling Genetic diversity Genomes Heart Medical genetics Methods Mutation Nucleotide sequencing Pathogenesis Pediatrics Population genetics Software Transposition Transposition of great arteries Veins & arteries |
| title | Clustering of Genetic Anomalies of Cilia Outer Dynein Arm and Central Apparatus in Patients with Transposition of the Great Arteries |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-07T21%3A04%3A50IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Clustering%20of%20Genetic%20Anomalies%20of%20Cilia%20Outer%20Dynein%20Arm%20and%20Central%20Apparatus%20in%20Patients%20with%20Transposition%20of%20the%20Great%20Arteries&rft.jtitle=Genes&rft.au=De%20Ita,%20Marlon&rft.date=2022-09-01&rft.volume=13&rft.issue=9&rft.spage=1662&rft.pages=1662-&rft.issn=2073-4425&rft.eissn=2073-4425&rft_id=info:doi/10.3390/genes13091662&rft_dat=%3Cgale_pubme%3EA745723158%3C/gale_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2716540007&rft_id=info:pmid/&rft_galeid=A745723158&rfr_iscdi=true |