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Prevalence of mutations in Mendelian stroke genes in early-onset stroke patients

dc.rights.licenseopenen_US
dc.contributor.authorPARK, Hong-Kyun
dc.contributor.authorLEE, Keon-Joo
dc.contributor.authorPARK, Jong-Moo
dc.contributor.authorKANG, Kyusik
dc.contributor.authorLEE, Soo Joo
dc.contributor.authorKIM, Jae Guk
dc.contributor.authorCHA, Jae-Kwan
dc.contributor.authorKIM, Dae-Hyun
dc.contributor.authorHAN, Moon-Ku
dc.contributor.authorKANG, Jihoon
dc.contributor.authorKIM, Beom Joon
dc.contributor.authorPARK, Tai Hwan
dc.contributor.authorPARK, Moo-Seok
dc.contributor.authorLEE, Kyung Bok
dc.contributor.authorLEE, Jun
dc.contributor.authorHONG, Keun-Sik
dc.contributor.authorCHO, Yong-Jin
dc.contributor.authorLEE, Byung-Chul
dc.contributor.authorYU, Kyung-Ho
dc.contributor.authorOH, Mi Sun
dc.contributor.authorKIM, Joon-Tae
dc.contributor.authorCHOI, Kang-Ho
dc.contributor.authorKIM, Dong-Eog
dc.contributor.authorRYU, Wi-Sun
dc.contributor.authorCHOI, Jay Chol
dc.contributor.authorKWON, Jee-Hyun
dc.contributor.authorKIM, Wook-Joo
dc.contributor.authorSHIN, Dong-Ick
dc.contributor.authorSOHN, Sung Il
dc.contributor.authorHONG, Jeong-Ho
dc.contributor.authorLEE, Juneyoung
dc.contributor.authorLEE, Kyunghoon
dc.contributor.authorSONG, Junghan
dc.contributor.authorBAE, Joon Seol
dc.contributor.authorCHEONG, Hyun Sub
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorDEBETTE, Stephanie
dc.contributor.authorBAE, Hee-Joon
dc.date.accessioned2023-02-20T10:11:14Z
dc.date.available2023-02-20T10:11:14Z
dc.date.issued2023-04
dc.identifier.issn0364-5134en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/171991
dc.description.abstractEnOBJECTIVE: Heritability of stroke is assumed not to be low, especially in the young-age stroke population. However, most genetic studies have been performed in highly selected patients with typical clinical or neuroimaging characteristics. We investigated the prevalence of 15 Mendelian stroke genes and explored the relationships between variants and the clinical and neuroimaging characteristics in a large, unselected, young stroke population. METHODS: We enrolled patients aged ≤55 years with stroke or transient ischemic attack from a prospective, nationwide, multicenter stroke registry. We identified clinically relevant genetic variants (CRGV) in 15 Mendelian stroke genes (GLA, NOTCH3, HTRA1, RNF213, ACVRL1, ENG, CBS, TREX1, ABCC6, COL4A1, FBN1, NF1, COL3A1, MT-TL1, and APP) using a customized, targeted next-generation sequencing panel. RESULTS: Among 1,033 patients, 131 (12.7%) had 28 CRGV, most frequently in RNF213 (n=59), followed by ABCC6 (n=53) and NOTCH3 (n=15). The frequency of CRGV differed by ischemic stroke subtypes (p<0.01)-highest in other determined etiology (20.1%), followed by large artery atherosclerosis (13.6%). It also differed between patients aged ≤35 years and those aged 51-55 years (17.1% vs. 9.3%, p=0.02). Only 27.1% and 26.7% of patients with RNF213 and NOTCH3 variants had typical neuroimaging features of the corresponding disorders, respectively. Variants of uncertain significance (VUS) were found in 15.4% patients. INTERPRETATION: CRGV in 15 Mendelian stroke genes may not be uncommon in the young stroke population. The majority of patients with CRGV did not have typical features of the corresponding monogenic disorders. Clinical implications of having CRGV or VUS should be explored. This article is protected by copyright. All rights reserved.
dc.language.isoENen_US
dc.title.enPrevalence of mutations in Mendelian stroke genes in early-onset stroke patients
dc.title.alternativeAnn Neurolen_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1002/ana.26575en_US
dc.subject.halSciences du Vivant [q-bio]/Santé publique et épidémiologieen_US
dc.identifier.pubmed36541592en_US
bordeaux.journalAnnals of Neurologyen_US
bordeaux.page768-782
bordeaux.volume93
bordeaux.hal.laboratoriesBordeaux Population Health Research Center (BPH) - UMR 1219en_US
bordeaux.issue4
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.teamELEANOR_BPHen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.identifierhal-03996796
hal.version1
hal.date.transferred2023-02-20T10:12:09Z
hal.exporttrue
dc.rights.ccPas de Licence CCen_US
bordeaux.COinSctx_ver=Z39.88-2004&amp;rft_val_fmt=info:ofi/fmt:kev:mtx:journal&amp;rft.jtitle=Annals%20of%20Neurology&amp;rft.date=2023-04&amp;rft.volume=93&amp;rft.issue=4&amp;rft.spage=768-782&amp;rft.epage=768-782&amp;rft.eissn=0364-5134&amp;rft.issn=0364-5134&amp;rft.au=PARK,%20Hong-Kyun&amp;LEE,%20Keon-Joo&amp;PARK,%20Jong-Moo&amp;KANG,%20Kyusik&amp;LEE,%20Soo%20Joo&amp;rft.genre=article


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