Unraveling the genomic architecture of supernumerary (iso-)dicentric chromosomes in Dup15q syndrome: insight from a systematic literature-based study
Chromosomal aberrations, particularly copy-number variations (CNVs), are prevalent in neurodevelopmental disorders (NDD) and significantly contribute to their pathogenesis. Copy-number gains (CN gains) in 15q11-q13, primarily consisting of a pseudo (iso-)dicentric chromosome 15 [ (i)dic(15) ] or an...
Gespeichert in:
| Hauptverfasser: | , , , , , |
|---|---|
| Dokumenttyp: | Article (Journal) Kapitel/Artikel |
| Sprache: | Englisch |
| Veröffentlicht: |
28 Jan. 2025
|
| In: |
Research Square
Year: 2025, Pages: 1-19 |
| ISSN: | 2693-5015 |
| DOI: | 10.21203/rs.3.rs-5833554/v1 |
| Online-Zugang: | Verlag, kostenfrei, Volltext: https://doi.org/10.21203/rs.3.rs-5833554/v1 Verlag, kostenfrei, Volltext: https://www.researchsquare.com/article/rs-5833554/v1 
|
| Verfasserangaben: | Sebastian Burkart, Markus Ries, Verena Romero, Karin Burau, Christian P. Schaaf, Maja Hempel |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1915861470 | ||
| 003 | DE-627 | ||
| 005 | 20250729134347.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 250129s2025 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.21203/rs.3.rs-5833554/v1 |2 doi | |
| 035 | |a (DE-627)1915861470 | ||
| 035 | |a (DE-599)KXP1915861470 | ||
| 035 | |a (OCoLC)1528017587 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Burkart, Sebastian |d 1996- |e VerfasserIn |0 (DE-588)1286832462 |0 (DE-627)1843420848 |4 aut | |
| 245 | 1 | 0 | |a Unraveling the genomic architecture of supernumerary (iso-)dicentric chromosomes in Dup15q syndrome |b insight from a systematic literature-based study |c Sebastian Burkart, Markus Ries, Verena Romero, Karin Burau, Christian P. Schaaf, Maja Hempel |
| 264 | 1 | |c 28 Jan. 2025 | |
| 300 | |a 19 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Gesehen am 29.01.2025 | ||
| 520 | |a Chromosomal aberrations, particularly copy-number variations (CNVs), are prevalent in neurodevelopmental disorders (NDD) and significantly contribute to their pathogenesis. Copy-number gains (CN gains) in 15q11-q13, primarily consisting of a pseudo (iso-)dicentric chromosome 15 [ (i)dic(15) ] or an interstitial duplication, are among the most frequent CNVs in NDD. The associated Dup15q syndrome is an early onset neurodevelopmental disorder characterized by global developmental delay, behavioral issues, and seizures with a variable onset and expression of symptoms. While a correlation between number of 15q11-q13 CN gain and symptom severity has been proposed, it fails to fully explain the wide phenotypic variability observed. We conducted a comprehensive systematic literature-based analysis of the supernumerary (i)dic(15), generating the largest literature-based cohort consisting of patient-level genotype data for Dup15q syndrome to date. Our findings identified symmetric BP3:BP3 and asymmetric BP4:BP5 (i)dic(15) configurations as the most common (i)dic(15) formations, likely arising from distinct mechanisms and potentially driving characteristic genotype-phenotype outcomes. Additionally, we identified a significant gap within the molecular characterization of (i)dic(15), particularly regarding information on nucleotide-level breakpoint, genomic structure, and differentially imprinted genes, being important aspects for genotype-phenotype predictions. Our findings provide critical insight into the molecular architecture of (i)dic(15), offering valuable implications for understanding pathomechanisms and guidance for future research into the molecular and clinical aspects of Dup15q syndrome. | ||
| 700 | 1 | |a Ries, Markus |d 1971- |e VerfasserIn |0 (DE-588)136385338 |0 (DE-627)582068479 |0 (DE-576)300993358 |4 aut | |
| 700 | 1 | |a Romero, Verena |e VerfasserIn |4 aut | |
| 700 | 1 | |a Burau, Karin |e VerfasserIn |0 (DE-588)1034228196 |0 (DE-627)745125794 |0 (DE-576)381857417 |4 aut | |
| 700 | 1 | |a Schaaf, Christian P. |d 1978- |e VerfasserIn |0 (DE-588)130397318 |0 (DE-627)500686025 |0 (DE-576)298170345 |4 aut | |
| 700 | 1 | |a Hempel, Maja |e VerfasserIn |0 (DE-588)1257379321 |0 (DE-627)1801684871 |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Research Square |d Durham, NC : Research Square, 2020 |g (2025) vom: Jan., Seite 1-19 |h Online-Ressource |w (DE-627)1736564625 |w (DE-600)3042859-2 |x 2693-5015 |7 nnas |a Unraveling the genomic architecture of supernumerary (iso-)dicentric chromosomes in Dup15q syndrome insight from a systematic literature-based study |
| 773 | 1 | 8 | |g year:2025 |g month:01 |g pages:1-19 |g extent:19 |a Unraveling the genomic architecture of supernumerary (iso-)dicentric chromosomes in Dup15q syndrome insight from a systematic literature-based study |
| 856 | 4 | 0 | |u https://doi.org/10.21203/rs.3.rs-5833554/v1 |x Verlag |x Resolving-System |z kostenfrei |3 Volltext |
| 856 | 4 | 0 | |u https://www.researchsquare.com/article/rs-5833554/v1 |x Verlag |z kostenfrei |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20250129 | ||
| 993 | |a Article | ||
| 994 | |a 2025 | ||
| 998 | |g 1257379321 |a Hempel, Maja |m 1257379321:Hempel, Maja |d 910000 |d 911500 |e 910000PH1257379321 |e 911500PH1257379321 |k 0/910000/ |k 1/910000/911500/ |p 6 |y j | ||
| 998 | |g 130397318 |a Schaaf, Christian P. |m 130397318:Schaaf, Christian P. |d 910000 |d 911500 |e 910000PS130397318 |e 911500PS130397318 |k 0/910000/ |k 1/910000/911500/ |p 5 | ||
| 998 | |g 1034228196 |a Burau, Karin |m 1034228196:Burau, Karin |d 910000 |d 911500 |e 910000PB1034228196 |e 911500PB1034228196 |k 0/910000/ |k 1/910000/911500/ |p 4 | ||
| 998 | |g 136385338 |a Ries, Markus |m 136385338:Ries, Markus |d 910000 |d 910500 |d 50000 |e 910000PR136385338 |e 910500PR136385338 |e 50000PR136385338 |k 0/910000/ |k 1/910000/910500/ |k 0/50000/ |p 2 | ||
| 998 | |g 1286832462 |a Burkart, Sebastian |m 1286832462:Burkart, Sebastian |d 910000 |d 911500 |e 910000PB1286832462 |e 911500PB1286832462 |k 0/910000/ |k 1/910000/911500/ |p 1 |x j | ||
| 999 | |a KXP-PPN1915861470 |e 4658644290 | ||
| BIB | |a Y | ||
| JSO | |a {"title":[{"title_sort":"Unraveling the genomic architecture of supernumerary (iso-)dicentric chromosomes in Dup15q syndrome","subtitle":"insight from a systematic literature-based study","title":"Unraveling the genomic architecture of supernumerary (iso-)dicentric chromosomes in Dup15q syndrome"}],"physDesc":[{"extent":"19 S."}],"relHost":[{"note":["Research Square is a leading author, editorial, and video services provider. We are a trusted partner to many of the leading academic publishers, institutions, and societies worldwide. Research Square is a mission-driven business focused on developing innovative software and services for the global research community. We run the largest author services company, American Journal Experts (AJE), and have supported over 775,000 manuscripts from researchers in 192 countries","Gesehen am 26.10.2020"],"titleAlt":[{"title":"Research square preprint platform - share and discover new research"}],"language":["eng"],"disp":"Unraveling the genomic architecture of supernumerary (iso-)dicentric chromosomes in Dup15q syndrome insight from a systematic literature-based studyResearch Square","origin":[{"dateIssuedDisp":"[2020?]-","publisherPlace":"Durham, NC","dateIssuedKey":"2020","publisher":"Research Square"}],"id":{"eki":["1736564625"],"zdb":["3042859-2"],"issn":["2693-5015"]},"recId":"1736564625","type":{"media":"Online-Ressource","bibl":"edited-book"},"physDesc":[{"extent":"Online-Ressource"}],"title":[{"title_sort":"Research Square","title":"Research Square"}],"part":{"extent":"19","text":"(2025) vom: Jan., Seite 1-19","year":"2025","pages":"1-19"}}],"person":[{"given":"Sebastian","display":"Burkart, Sebastian","role":"aut","family":"Burkart"},{"role":"aut","family":"Ries","display":"Ries, Markus","given":"Markus"},{"role":"aut","family":"Romero","display":"Romero, Verena","given":"Verena"},{"given":"Karin","role":"aut","family":"Burau","display":"Burau, Karin"},{"display":"Schaaf, Christian P.","role":"aut","family":"Schaaf","given":"Christian P."},{"family":"Hempel","role":"aut","display":"Hempel, Maja","given":"Maja"}],"language":["eng"],"note":["Gesehen am 29.01.2025"],"name":{"displayForm":["Sebastian Burkart, Markus Ries, Verena Romero, Karin Burau, Christian P. Schaaf, Maja Hempel"]},"origin":[{"dateIssuedKey":"2025","dateIssuedDisp":"28 Jan. 2025"}],"type":{"media":"Online-Ressource","bibl":"chapter"},"id":{"doi":["10.21203/rs.3.rs-5833554/v1"],"eki":["1915861470"]},"recId":"1915861470"} | ||
| SRT | |a BURKARTSEBUNRAVELING2820 | ||