https://m2.mtmt.hu/ hun 2026-09-21 06:28 JournalArticle 34135067 VALIDATED true 0 false 2026-08-04T11:26:56.250+0000 2024-01-12T09:17:06.757+0000 2023-09-11T13:44:14.532+0000 true 10070075 Nádas Orsolya /api/admin/10070075 Admin true 2026-04-09T19:58:16.482+0000 2024-01-12T09:17:07.012+0000 true 10080205 Szalóky-Siki Ágnes /api/admin/10080205 Admin true Admin 10003134 /api/admin/10003134 Wolf György true 10003134 true 2024-04-11T07:19:53.187+0000 true false true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle true 10000059 Article true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle /api/subtype/10000059 Szakcikk SubType 101 true 10000059 true 1 /api/category/1 Category true 1 Pálla, Sára Whole genome sequencing resolves 10 years diagnostic odyssey in familiar myxoma. true true /api/journal/10019966 REVIEWED true false 10019966 false 10019966 true 2045-2322 Journal FOREIGN 13 1 14658 14658 10 2023 Carney complex (CNC) is an ultrarare disorder causing cutaneous and cardiac myxomas, primary pigmented nodular adrenocortical disease, hypophyseal adenoma, and gonadal tumours. Genetic alterations are often missed under routine genetic testing. Pathogenic variants in PRKAR1A are identified in most cases, while large exonic or chromosomal deletions have only been reported in a few cases. Our aim was to identify the causal genetic alteration in our kindred with a clinical diagnosis of CNC and prove its pathogenic role by functional investigation. Targeted testing of PRKAR1A gene, whole exome and whole genome sequencing (WGS) were performed in the proband, one clinically affected and one unaffected relative. WGS identified a novel, large, 10,662 bp (10.6 kbp; LRG_514t1:c.-10403_-7 + 265del; hg19, chr17:g.66498293_66508954del) deletion in the promoter of PRKAR1A in heterozygous form in the affected family members. The exact breakpoints and the increased enzyme activity in deletion carriers compared to wild type carrier were proved. Segregation analysis and functional evaluation of PKA activity confirmed the pathogenic role of this alteration. A novel deletion upstream of the PRKAR1A gene was proved to be the cause of CNC. Our study underlines the need for WGS in molecular genetic testing of patients with monogenic disorders where conventional genetic analysis fails. Funding 2030826 /api/funding/2030826 false true Funding 2030827 /api/funding/2030827 false true Funding 2030828 /api/funding/2030828 false true Funding 2030829 /api/funding/2030829 false true Funding 2030830 /api/funding/2030830 false true Funding 2030831 /api/funding/2030831 false true Funding 2030832 /api/funding/2030832 false true Funding 2030833 /api/funding/2030833 false true Funding 2030834 /api/funding/2030834 false true true 2023 true true true false true false GOLD 2026-08-04 false http://www.nature.com/srep/index.html 7 0 7 2 5 6 6 6 7 7 7 2 2 2 5 0 7 2 7 2 0 4 4 Folyóiratcikk Journal Article 24 7 Könyvrészlet Chapter in Book 25 0 Könyv Book 23 0 Egyéb konferenciaközlemény Conference paper 31 0 Egyéb konferenciakötet Conference proceedings 32 0 Oltalmi formák Protection forms 26 0 Disszertáció Thesis 28 0 Egyéb Miscellaneous 29 0 Alkotás Achievement 22 0 Kutatási adat Research data 33 0 Folyóiratcikk Journal Article 24 0 0 0 Könyvrészlet Chapter in Book 25 0 0 0 Könyv Book 23 0 0 0 Egyéb konferenciaközlemény Conference paper 31 0 0 0 Egyéb konferenciakötet Conference proceedings 32 0 0 0 Oltalmi formák Protection forms 26 0 0 0 Disszertáció Thesis 28 0 0 0 Egyéb Miscellaneous 29 0 0 0 Alkotás Achievement 22 0 0 0 Kutatási adat Research data 33 0 0 0 2023 0 1 0 1 0 2024 0 1 1 1 1 2025 0 4 1 4 1 2026 0 1 0 1 0 D1 A nemzetközi false 10037621,10001006 false false false 2023-09-11T07:09:51.830+0000 Belgyógyászati és Onkológiai Klinika (SE / AOK / K); Bőr-, Nemikórtani és Bőronkológiai Klinika (SE / AOK / K); Laboratóriumi Medicina Intézet (SE / AOK / I); MTA-SE Örökletes Daganatok Kutatócsoport (SE / AOK / I / LABMEDINT); Országos Onkológiai Intézet; Patológiai és Kísérleti Rákkutató Intézet (SE / AOK / I); Sebészeti, Transzplantációs és Gasztroenterológ... (SE / AOK / K) 11 29 7 12 0 true 10003134 Language 10002 /api/language/10002 Angol English true 2 true PersonAuthorship 109844493 /api/authorship/109844493 1 0.083 true false false Author 10074254 /api/author/10074254 Pálla Sára Judit true true Pálla Sára true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 109844494 /api/authorship/109844494 2 0.083 true false Author 10043702 /api/author/10043702 Tőke Judit true 10043702 true Tőke Judit true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 109844495 /api/authorship/109844495 3 0.083 true false false Author 10040748 /api/author/10040748 Bozsik Anikó true 10040748 true Bozsik Anikó true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 109844496 /api/authorship/109844496 4 0.083 false false false Author 10020420 /api/author/10020420 Butz Henriett true 10020420 true Butz Henriett true false false 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0 true 0 true false true PersonAuthorship 109844501 /api/authorship/109844501 9 0.083 false false false Author 10054591 /api/author/10054591 Hamar Mátyás true 10054591 true Hamar Mátyás true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 109844502 /api/authorship/109844502 10 0.083333336 false false false Bertherat Jerome true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 109844503 /api/authorship/109844503 11 0.083 false false false Author 10012260 /api/author/10012260 Medvecz Márta true 10012260 true Medvecz Márta true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 109844504 /api/authorship/109844504 12 0.083 false true true Author 10001006 /api/author/10001006 Patócs Attila Balázs true 10001006 true Patócs Attila true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PublicationIdentifier 24360668 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Tudományok Bizottsága Committee on Regional Studies true 14100 true true true B nemzetközi false true SjrRating 11400906 /api/sjrrating/11400906 15 0.1 journal RatingType 10002 /api/ratingtype/10002 sjr true true ClassificationExternal 1000 /api/classificationexternal/1000 true 1000 true D1 DIRECT true true /api/publication/34135067 <div class="JournalArticle Publication long-list"> <div class="authors"> <img title="Forrásközlemény" style="float: left" src="/frontend/resources/grid/publication-core-icon.png"> <img title="Idézőközlemény" style="float: left" src="/frontend/resources/grid/publication-citation-icon.png"> <div class="autype autype0"> <span class="author-name" mtid="10074254"><a href="/gui2/?type=authors&mode=browse&sel=10074254" target="_blank">Pálla Sára (<span class="authorship-author-name">Pálla Sára Judit</span> <span class="authorAux-mtmt"> Bőrgyógyászat</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/Bőr-, Nemikórtani és Bőronkológiai Klinika</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10043702"><a href="/gui2/?type=authors&mode=browse&sel=10043702" target="_blank">Tőke Judit<sup>*</sup> (<span class="authorship-author-name">Tőke Judit</span> <span class="authorAux-mtmt"> Belgyógyászat, Endokrinológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/Belgyógyászati és Onkológiai Klinika</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10040748"><a href="/gui2/?type=authors&mode=browse&sel=10040748" target="_blank">Bozsik Anikó<sup>*</sup> (<span class="authorship-author-name">Bozsik Anikó</span> <span class="authorAux-mtmt"> Molekuláris biológia, genetika</span>) </a> </span> <span class="author-affil">Országos Onkológiai Intézet; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/<span title="Laboratóriumi Medicina Intézet">LABMEDINT</span>/MTA-SE Örökletes Daganatok Kutatócsoport</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10020420"><a href="/gui2/?type=authors&mode=browse&sel=10020420" target="_blank">Butz Henriett (<span class="authorship-author-name">Butz Henriett</span> <span class="authorAux-mtmt"> orvostudomány</span>) </a> </span> <span class="author-affil">Országos Onkológiai Intézet; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/<span title="Laboratóriumi Medicina Intézet">LABMEDINT</span>/MTA-SE Örökletes Daganatok Kutatócsoport</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10040551"><a href="/gui2/?type=authors&mode=browse&sel=10040551" target="_blank">Papp János (<span class="authorship-author-name">Papp János</span> <span class="authorAux-mtmt"> molekuláris genetika</span>) </a> </span> <span class="author-affil">Országos Onkológiai Intézet</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10025130"><a href="/gui2/?type=authors&mode=browse&sel=10025130" target="_blank">Likó István (<span class="authorship-author-name">Likó István</span> <span class="authorAux-mtmt"> Bioinformatika-Molekuláris biológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/<span title="Laboratóriumi Medicina Intézet">LABMEDINT</span>/MTA-SE Örökletes Daganatok Kutatócsoport</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10069048"><a href="/gui2/?type=authors&mode=browse&sel=10069048" target="_blank">Kuroli Enikő (<span class="authorship-author-name">Kuroli Enikő</span> <span class="authorAux-mtmt"> bőrgyógyászat, patológia</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/Bőr-, Nemikórtani és Bőronkológiai Klinika; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/Patológiai és Kísérleti Rákkutató Intézet</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10037621"><a href="/gui2/?type=authors&mode=browse&sel=10037621" target="_blank">Bánvölgyi András (<span class="authorship-author-name">Bánvölgyi András</span> <span class="authorAux-mtmt"> bőrgyógyászat</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/Bőr-, Nemikórtani és Bőronkológiai Klinika</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10054591"><a href="/gui2/?type=authors&mode=browse&sel=10054591" target="_blank">Hamar Mátyás (<span class="authorship-author-name">Hamar Mátyás</span> <span class="authorAux-mtmt"> sebészet</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/Sebészeti, Transzplantációs és Gasztroenterológiai Klinika</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Bertherat Jerome </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10012260"><a href="/gui2/?type=authors&mode=browse&sel=10012260" target="_blank">Medvecz Márta (<span class="authorship-author-name">Medvecz Márta</span> <span class="authorAux-mtmt"> Bőrgyógyászat</span>) </a> </span> <span class="author-affil"><span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/Bőr-, Nemikórtani és Bőronkológiai Klinika</span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10001006"><a href="/gui2/?type=authors&mode=browse&sel=10001006" target="_blank">Patócs Attila ✉ (<span class="authorship-author-name">Patócs Attila Balázs</span> <span class="authorAux-mtmt"> Orvostudomány</span>) </a> </span> <span class="author-affil">Országos Onkológiai Intézet; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/Laboratóriumi Medicina Intézet; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Intézet">I</span>/<span title="Laboratóriumi Medicina Intézet">LABMEDINT</span>/MTA-SE Örökletes Daganatok Kutatócsoport</span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;34135067" target="_blank">Whole genome sequencing resolves 10 years diagnostic odyssey in familiar myxoma.</a></div> <div> <span class="journal-title">SCIENTIFIC REPORTS</span> <span class="journal-issn">( <a target="_blank" href="https://portal.issn.org/resource/ISSN/2045-2322">2045-2322</a>)</span>: <span class="journal-volume">13</span> <span class="journal-issue">1</span> <span class="page"> Paper 14658. 10 p. </span> <span class="year">(2023)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Nyelv: Angol | </span> <span class="identifiers"> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="10.1038/s41598-023-41878-9" target="_blank" href="https://doi.org/10.1038/s41598-023-41878-9"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="001125076900006" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/001125076900006"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85169756561" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85169756561"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="37670105" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=37670105&dopt=Abstract"> PubMed </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Folyóirat szakterülete: Scopus - Multidisciplinary&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;D1</div> <div class="journal-subject">Szociológiai Tudományos Bizottság IXGJO SZTB [1901-]&nbsp;&nbsp;&nbsp;A nemzetközi</div> <div class="journal-subject">Regionális Tudományok Bizottsága IXGJO RTB [1901-]&nbsp;&nbsp;&nbsp;B nemzetközi</div> </div></OnlyViewableByAuthor> <div class="publication-citation" style="margin-left: 0.5cm;"> <span title="Nyilvános idézőközlemények összesen, említések nélkül" class="citingPub-count">Nyilvános idéző összesen: 7</span> | Független: 2 | Függő: 5 | Nem jelölt: 0 | WoS jelölt: 6 | Scopus jelölt:&nbsp;7 | WoS/Scopus jelölt:&nbsp;7 | DOI jelölt:&nbsp;6 </div> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;34135067&sort=publishedYear,desc&sort=title"> Idézett közlemények száma: 4 </a> </div> <div class="mtid"><span class="long-pub-mtid">Közlemény: 34135067</span> | <span class="status-data status-VALIDATED"> Egyeztetett </span> Forrás Idéző | <span class="type-subtype">Folyóiratcikk ( Szakcikk ) </span> | <span class="pub-category">Tudományos</span> | <span class="publication-sourceOfData">kézi felvitel</span> </div> <div class="funder"> (TKP2021-EGA), (TKP2021-NVA), (TKP2021-NKTA), (National Laboratories Excellence program (under the National Tumorbiology Laboratory project)), (FK131916), Az orvos-, egészségtudományi- és gyógyszerészképzés tudományos műhelyeinek fejlesztése(EFOP-3.6.3-VEKOP-16-2017-00009) Támogató: EFOP-VEKOP, (ÚNKP-20-3-I-SE-24), (Bolyai Research Fellowship of the Hungarian Academy of Sciences), (ÚNKP-22–5-SE-1.) </div> <div class="lastModified">Utolsó módosítás: 2024.01.12. 10:17 Szalóky-Siki Ágnes (SE_KK_Admin5_SZSA, admin) </div> <div class="lockedBy">Központi kezelésű 2024.04.11. 09:19 Wolf György (MTMT Központi admin) </div> </div></div>