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A recurrent synonymous L1CAM variant in a fetus with hydrocephalus

dc.contributor.authorŠubrt, Ivan
dc.contributor.authorZavoral, Tomáš
dc.contributor.authorStrych, Lukáš
dc.contributor.authorČerná, Monika
dc.contributor.authorHejnalová, Markéta
dc.contributor.authorKomrsková, Pavla
dc.contributor.authorTejcová, Jitka
dc.date.accessioned2024-02-08T12:10:56Z
dc.date.available2024-02-08T12:10:56Z
dc.date.issued2024
dc.identifier.urihttps://hdl.handle.net/20.500.14178/2244
dc.description.abstractWe report the case of a hydrocephalic fetus in which clinical exome sequencing revealed a recurrent synonymous variant of unknown significance, c.453G>T, in the L1CAM gene. This report presents the second case of X-linked hydrocephalus in a fetus with this variant. Since we reproduced the RNA analysis, we were able to reclassify this variant as likely pathogenic. Our results stress the importance of not excluding synonymous variants during prioritization.en
dc.language.isoen
dc.relation.urlhttps://doi.org/10.1038/s41439-024-00263-2
dc.rightsCreative Commons Uveďte původ 4.0 Internationalcs
dc.rightsCreative Commons Attribution 4.0 Internationalen
dc.titleA recurrent synonymous L1CAM variant in a fetus with hydrocephalusen
dcterms.accessRightsopenAccess
dcterms.licensehttps://creativecommons.org/licenses/by/4.0/legalcode
dc.date.updated2024-02-11T16:10:37Z
dc.subject.keywordsynonymousen
dc.subject.keywordvarianten
dc.subject.keywordsplicingen
dc.subject.keywordL1CAMen
dc.subject.keywordhydrocephalusen
dc.relation.fundingReferenceinfo:eu-repo/grantAgreement/MSM/LM/LM2023067
dc.relation.fundingReferenceinfo:eu-repo/grantAgreement/FN/I-FN/I-FNP-51
dc.date.embargoStartDate2024-02-11
dc.type.obd73
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dc.identifier.doi10.1038/s41439-024-00263-2
dc.identifier.utWos001155071900001
dc.identifier.eidScopus2-s2.0-85182851324
dc.identifier.obd642058
dc.identifier.pubmed38263409
dc.subject.rivPrimary30000::30100::30101
dcterms.isPartOf.nameHuman Genome Variation
dcterms.isPartOf.issn2054-345X
dcterms.isPartOf.journalYear2024
dcterms.isPartOf.journalVolume11
dcterms.isPartOf.journalIssue1
uk.faculty.primaryId111
uk.faculty.primaryNameLékařská fakulta v Plznics
uk.faculty.primaryNameFaculty of Medicine in Pilsenen
uk.faculty.secondaryId54
uk.faculty.secondaryNameFakultní nemocnice Plzeňcs
uk.faculty.secondaryNameUniversity Hospital in Pilsenen
uk.department.primaryId1358
uk.department.primaryNameÚstav lékařské genetikycs
uk.department.primaryNameDepartment of Medical Geneticsen
uk.department.secondaryId5000002736
uk.department.secondaryNameÚstav lékařské genetikycs
uk.department.secondaryNameDepartment of Medical Geneticsen
dc.type.obdHierarchyCsČLÁNEK V ČASOPISU::článek v časopisu::původní článekcs
dc.type.obdHierarchyEnJOURNAL ARTICLE::journal article::original articleen
dc.type.obdHierarchyCode73::152::206en
uk.displayTitleA recurrent synonymous L1CAM variant in a fetus with hydrocephalusen


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