dc.contributor.author | Šubrt, Ivan | |
dc.contributor.author | Zavoral, Tomáš | |
dc.contributor.author | Strych, Lukáš | |
dc.contributor.author | Černá, Monika | |
dc.contributor.author | Hejnalová, Markéta | |
dc.contributor.author | Komrsková, Pavla | |
dc.contributor.author | Tejcová, Jitka | |
dc.date.accessioned | 2024-02-08T12:10:56Z | |
dc.date.available | 2024-02-08T12:10:56Z | |
dc.date.issued | 2024 | |
dc.identifier.uri | https://hdl.handle.net/20.500.14178/2244 | |
dc.description.abstract | We 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.iso | en | |
dc.relation.url | https://doi.org/10.1038/s41439-024-00263-2 | |
dc.rights | Creative Commons Uveďte původ 4.0 International | cs |
dc.rights | Creative Commons Attribution 4.0 International | en |
dc.title | A recurrent synonymous L1CAM variant in a fetus with hydrocephalus | en |
dcterms.accessRights | openAccess | |
dcterms.license | https://creativecommons.org/licenses/by/4.0/legalcode | |
dc.date.updated | 2025-01-15T10:12:19Z | |
dc.subject.keyword | synonymous | en |
dc.subject.keyword | variant | en |
dc.subject.keyword | splicing | en |
dc.subject.keyword | L1CAM | en |
dc.subject.keyword | hydrocephalus | en |
dc.identifier.eissn | 2054-345X | |
dc.relation.fundingReference | info:eu-repo/grantAgreement/MSM/LM/LM2023067 | |
dc.relation.fundingReference | info:eu-repo/grantAgreement/FN/I-FN/I-FNP-51 | |
dc.relation.fundingReference | info:eu-repo/grantAgreement/MSM/LM/LM2023067 | |
dc.date.embargoStartDate | 2025-01-15 | |
dc.type.obd | 73 | |
dc.type.version | info:eu-repo/semantics/publishedVersion | |
dc.identifier.doi | 10.1038/s41439-024-00263-2 | |
dc.identifier.utWos | 001155071900001 | |
dc.identifier.eidScopus | 2-s2.0-85182851324 | |
dc.identifier.obd | 642058 | |
dc.identifier.pubmed | 38263409 | |
dc.subject.rivPrimary | 30000::30100::30101 | |
dcterms.isPartOf.name | Human Genome Variation | |
dcterms.isPartOf.issn | 2054-345X | |
dcterms.isPartOf.journalYear | 2024 | |
dcterms.isPartOf.journalVolume | 11 | |
dcterms.isPartOf.journalIssue | 1 | |
uk.faculty.primaryId | 111 | |
uk.faculty.primaryName | Lékařská fakulta v Plzni | cs |
uk.faculty.primaryName | Faculty of Medicine in Pilsen | en |
uk.faculty.secondaryId | 54 | |
uk.faculty.secondaryName | Fakultní nemocnice Plzeň | cs |
uk.faculty.secondaryName | University Hospital in Pilsen | en |
uk.department.primaryId | 1358 | |
uk.department.primaryName | Ústav lékařské genetiky | cs |
uk.department.primaryName | Department of Medical Genetics | en |
uk.department.secondaryId | 5000002736 | |
uk.department.secondaryName | Ústav lékařské genetiky | cs |
uk.department.secondaryName | Department of Medical Genetics | en |
dc.type.obdHierarchyCs | ČLÁNEK V ČASOPISU::článek v časopisu::původní článek | cs |
dc.type.obdHierarchyEn | JOURNAL ARTICLE::journal article::original article | en |
dc.type.obdHierarchyCode | 73::152::206 | en |
uk.displayTitle | A recurrent synonymous L1CAM variant in a fetus with hydrocephalus | en |