https://m2.mtmt.hu/ hun 2026-05-04 10:22 JournalArticle 34831433 VALIDATED true 0 false 2026-02-24T07:59:04.239+0000 2026-02-04T10:58:03.657+0000 2024-05-02T08:25:13.825+0000 true 10062250 Molnár-Taga Márta /api/admin/10062250 Admin true 10062250 2026-02-04T10:58:03.821+0000 2026-02-04T10:58:03.821+0000 2024-05-02T08:25:19.075+0000 true 10062250 Molnár-Taga Márta /api/admin/10062250 Admin true 10062250 Admin 10073918 /api/admin/10073918 Kovács Marcell true true 2026-01-26T16:13:41.604+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 Illés, Anett Screening of premature ovarian insufficiency associated genes in Hungarian patients with next generation sequencing true true /api/journal/10011359 REVIEWED true false 10011359 false 10011359 true 1755-8794 1755-8794 Journal FOREIGN 17 1 98 98 11 2024 Background Premature ovarian insuffiency (POI) is one of the main cause behind infertility. The genetic analysis of POI should be part of the clinical diagnostics, as several genes have been implicated in the genetic background of it. The aim of our study was to analyse the genetic background of POI in a Hungarian cohort. Methods The age of onset was between 15 and 39 years. All patients had the 46,XX karyotype and they were prescreened for the most frequent POI associated FMR1 premutation. To identify genetic alterations next-generation sequencing (NGS) of 31 genes which were previously associated to POI were carried out in 48 unrelated patients from Hungary. Results Monogenic defect was identified in 16.7% (8 of 48) and a potential genetic risk factor was found in 29.2% (14 of 48) and susceptible oligogenic effect was described in 12.5% (6 of 48) of women with POI using the customized targeted panel sequencing. The genetic analysis identified 8 heterozygous damaging and 4 potentially damaging variants in POI-associated genes. Further 10 potential genetic risk factors were detected in seven genes, from which EIF2B and GALT were the most frequent. These variants were related to 15 genes: AIRE, ATM, DACH2, DAZL, EIF2B2, EIF2B4, FMR1, GALT, GDF9, HS6ST2, LHCGR, NOBOX, POLG, USP9X and XPNPEP2. In six cases, two or three coexisting damaging mutations and risk variants were identified. Conclusions POI is characterized by heterogenous phenotypic features with complex genetic background that contains increasing number of genes. Deleterious variants, which were detected in our cohort, related to gonadal development (oogenesis and folliculogenesis), meiosis and DNA repair, hormonal signaling, immune function, and metabolism which were previously associated with the POI phenotype. This is the first genetic epidemiology study targeting POI associated genes in Hungary. The frequency of variants in different POI associated genes were similar to the literature, except EIF2B and GALT. Both of these genes potential risk factor were detected which could influence the phenotype, although it is unlikely that they can be responsible for the development of the disease by themselves. Advances of sequencing technologies make it possible to aid diagnostics of POI Since individual patients show high phenotypic variance because of the complex network controlling human folliculogenesis. Comprehensive NGS screening by widening the scope to genes which were previously linked to infertility may facilitate more accurate, quicker and cheaper genetic diagnoses for POI. The investigation of patient’s genotype could support clinical decision-making process and pave the way for future clinical trials and therapies. Funding 2039705 /api/funding/2039705 false true Funding 2039706 /api/funding/2039706 false true true true 2024 true true true false true false GOLD 2026-02-24 true https://doi.org/10.1186/s12920-024-01873-z 2 0 2 2 0 2 2 2 2 2 2 2 2 2 0 0 2 2 2 2 0 0 0 Folyóiratcikk Journal Article 24 2 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 2025 0 2 2 2 2 Q3 false false false false 2024-05-01T08:25:18.973+0000 Belgyógyászati és Onkológiai Klinika (SE / AOK / K); Szülészeti és Nőgyógyászati Klinika (SE / AOK / K); Szülészeti és Nőgyógyászati Klinika Baross utca... (SE / AOK / K / SZSZNK) 7 17 3 8 0 true 10073918 Language 10002 /api/language/10002 Angol English true 2 true PersonAuthorship 116459028 /api/authorship/116459028 1 0.125 true false false Author 10048349 /api/author/10048349 Illés Anett true 10048349 true Illés Anett true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 116459029 /api/authorship/116459029 2 0.125 false false false Author 10050709 /api/author/10050709 Pikó Henriett true 10050709 true Pikó Henriett true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 116459030 /api/authorship/116459030 3 0.125 false false false Author 10053042 /api/author/10053042 Árvai Kristóf true 10053042 true Árvai Kristóf true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 116459031 /api/authorship/116459031 4 0.125 false false false Author 10100432 /api/author/10100432 Donka Veronika true true Donka Veronika true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 116459032 /api/authorship/116459032 5 0.125 false false false Szepesi Olívia true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 116459033 /api/authorship/116459033 6 0.125 false false false Author 10024099 /api/author/10024099 Kósa János true 10024099 true Kósa János true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 116459034 /api/authorship/116459034 7 0.125 false false false Author 10012016 /api/author/10012016 Lakatos Péter true 10012016 true Lakatos Péter true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 116459035 /api/authorship/116459035 8 0.125 false true true Author 10000568 /api/author/10000568 Beke Artúr true 10000568 true Beke Artúr true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PublicationIdentifier 26121532 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/api/classification/12215 true true Keyword 19864 /api/keyword/19864 true 19864 true Keyword 1028237 /api/keyword/1028237 true 1028237 true Keyword 1268965 /api/keyword/1268965 true 1268965 true Keyword 1408210 /api/keyword/1408210 true 1408210 true Keyword 1603000 /api/keyword/1603000 true true Keyword 1657930 /api/keyword/1657930 true true Keyword 2822582 /api/keyword/2822582 true true SjrRating 11466325 /api/sjrrating/11466325 55 0.74 journal RatingType 10002 /api/ratingtype/10002 sjr true true ClassificationExternal 2716 /api/classificationexternal/2716 true 2716 true Q3 DIRECT true true /api/publication/34831433 <div class="JournalArticle Publication long-list"> <div class="authors"> <img title="Forrásközlemény" style="float: left" src="/frontend/resources/grid/publication-core-icon.png"> <div class="autype autype0"> <span class="author-name" mtid="10048349"><a href="/gui2/?type=authors&mode=browse&sel=10048349" target="_blank">Illés Anett (<span class="authorship-author-name">Illés Anett</span> <span class="authorAux-mtmt"> Molekuláris biológia, Genetika</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="10050709"><a href="/gui2/?type=authors&mode=browse&sel=10050709" target="_blank">Pikó Henriett (<span class="authorship-author-name">Pikó Henriett</span> <span class="authorAux-mtmt"> molekuláris biológia</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="10053042"><a href="/gui2/?type=authors&mode=browse&sel=10053042" target="_blank">Árvai Kristóf (<span class="authorship-author-name">Árvai Kristóf</span> <span class="authorAux-mtmt"> molekuláris biológia</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="10100432"><a href="/gui2/?type=authors&mode=browse&sel=10100432" target="_blank">Donka Veronika (<span class="authorship-author-name">Donka Veronika</span> <span class="authorAux-mtmt"> Szülészet-nőgyógyászat</span>) </a> </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Szepesi Olívia </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" mtid="10024099"><a href="/gui2/?type=authors&mode=browse&sel=10024099" target="_blank">Kósa János (<span class="authorship-author-name">Kósa János</span> <span class="authorAux-mtmt"> molekuláris biológia</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="10012016"><a href="/gui2/?type=authors&mode=browse&sel=10012016" target="_blank">Lakatos Péter (<span class="authorship-author-name">Lakatos Péter</span> <span class="authorAux-mtmt"> Osteológia, endokrinológia, molekuláris biológia</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="10000568"><a href="/gui2/?type=authors&mode=browse&sel=10000568" target="_blank">Beke Artúr ✉ (<span class="authorship-author-name">Beke Artúr</span> <span class="authorAux-mtmt"> Genetika, Szülészeti genetika, Szülészet-Nőgyóg...</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>/Szülészeti és Nőgyógyászati Klinika; <span title="Semmelweis Egyetem">SE</span>/<span title="Általános Orvostudományi Kar">AOK</span>/<span title="Klinikum">K</span>/<span title="Szülészeti és Nőgyógyászati Klinika">SZSZNK</span>/Szülészeti és Nőgyógyászati Klinika Baross utcai részleg</span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;34831433" target="_blank">Screening of premature ovarian insufficiency associated genes in Hungarian patients with next generation sequencing</a></div> <div> <span class="journal-title">BMC MEDICAL GENOMICS</span> <span class="journal-issn">(<a target="_blank" href="https://portal.issn.org/resource/ISSN/1755-8794">1755-8794</a> <a target="_blank" href="https://portal.issn.org/resource/ISSN/1755-8794">1755-8794</a>)</span>: <span class="journal-volume">17</span> <span class="journal-issue">1</span> <span class="page"> Paper 98. 11 p. </span> <span class="year">(2024)</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_GOLD" title=" Gold "> <a style="color:blue" title="10.1186/s12920-024-01873-z" target="_blank" href="https://doi.org/10.1186/s12920-024-01873-z"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="001206324600003" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/001206324600003"> WoS </a> </span> <span class="id identifier oa_GREEN" title=" Green "> <a style="color:blue" title="380002683" target="_blank" href="https://www.researchgate.net/publication/380002683"> ResearchGate publ. </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85191083875" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85191083875"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="38649916" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=38649916&dopt=Abstract"> PubMed </a> </span> </span> <OnlyViewableByAuthor><div class="ratings"> <div class="journal-subject">Folyóirat szakterülete: Scopus - Genetics (clinical)&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q3</div> <div class="journal-subject">Folyóirat szakterülete: Scopus - Genetics&nbsp;&nbsp;&nbsp;SJR indikátor:&nbsp;Q3</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: 2</span> | Független: 2 | Függő: 0 | Nem jelölt: 0 | WoS jelölt: 2 | Scopus jelölt:&nbsp;2 | WoS/Scopus jelölt:&nbsp;2 | DOI jelölt:&nbsp;2 </div> <div class="mtid"><span class="long-pub-mtid">Közlemény: 34831433</span> | <span class="status-data status-VALIDATED"> Egyeztetett </span> Forrás | <span class="type-subtype">Folyóiratcikk ( Szakcikk ) </span> | <span class="pub-category">Tudományos</span> | <span class="publication-sourceOfData">kézi felvitel</span> </div> <div class="funder"> (K 109640) Támogató: OTKA, (Open access funding provided by Semmelweis University) </div> <div class="lastModified">Utolsó módosítás: 2026.02.04. 11:58 Kovács Marcell (MTMT Közp., admin) </div> <div class="lockedBy">Központi kezelésű 2026.01.26. 17:13 Kovács Marcell (MTMT Közp., admin) </div> </div></div>