Vis enkel innførsel

dc.contributor.authorHoem, Gry
dc.contributor.authorPastore, Arianna
dc.contributor.authorBratland, Eirik
dc.contributor.authorChristoffersen, Terje
dc.contributor.authorStornaiuolo, Mariano
dc.contributor.authorHouge, Sofia Douzgou
dc.date.accessioned2024-10-10T09:39:30Z
dc.date.available2024-10-10T09:39:30Z
dc.date.issued2024-02-15
dc.description.abstractFamilial exudative vitreoretinopathy (FEVR) is linked to disruption of the Norrin/ Frizzled-4 signaling pathway, which plays an important role in retinal angiogenesis. Severe or complete knock-down of proteins in the pathway also causes syndromic forms of the condition. Both heterozygous and biallelic pathogenic variants in the FZD4 gene, encoding the pathway's key protein frizzled-4, are known to cause FEVR. However, it is not clear what effect different FZD4 variants have, and whether extraocular features should be expected in those with biallelic pathogenic FZD4 variants. Biallelic FZD4 variants were found in a young boy with isolated, severe FEVR. His parents were heterozygous for one variant each and reported normal vision. Invitro studies of the two variants, demonstrated that it was the combination of the two which led to severe inhibition of the Norrin/Frizzled-4 pathway. Our observations demonstrate that biallelic FZD4-variants are associated with a severe form of FEVR, which does not necessarily include extraocular features. In addition, variants causing severe FEVR in combination, may have no or minimal effect in heterozygous parents as non-penetrance is also a major feature in dominant FZD4-FEVR disease. This underscores the importance of genetic testing of individuals and families with FEVR.en_US
dc.identifier.citationHoem, Pastore, Bratland, Christoffersen, Stornaiuolo, Houge. Severe isolated exudative vitreoretinopathy caused by biallelic FZD4 variants. Clinical Genetics. 2024en_US
dc.identifier.cristinIDFRIDAID 2258201
dc.identifier.doi10.1111/cge.14499
dc.identifier.issn0009-9163
dc.identifier.issn1399-0004
dc.identifier.urihttps://hdl.handle.net/10037/35177
dc.language.isoengen_US
dc.publisherWileyen_US
dc.relation.journalClinical Genetics
dc.rights.accessRightsopenAccessen_US
dc.rights.holderCopyright 2024 The Author(s)en_US
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/4.0en_US
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0)en_US
dc.titleSevere isolated exudative vitreoretinopathy caused by biallelic FZD4 variantsen_US
dc.type.versionpublishedVersionen_US
dc.typeJournal articleen_US
dc.typeTidsskriftartikkelen_US
dc.typePeer revieweden_US


Tilhørende fil(er)

Thumbnail

Denne innførselen finnes i følgende samling(er)

Vis enkel innførsel

Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0)
Med mindre det står noe annet, er denne innførselens lisens beskrevet som Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0)