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Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-Related Phenotypes

dc.contributor.authorCoppieters, F
dc.contributor.authorCasteels, I
dc.contributor.authorMeire, F
dc.contributor.authorDe Jaegere, S
dc.contributor.authorHooghe, S
dc.contributor.authorvan Regemorter, N
dc.contributor.authorVan Esch, H
dc.contributor.authorMatuleviciene, A
dc.contributor.authorNunes, L
dc.contributor.authorMeersschaut, V
dc.contributor.authorWalraedt, S
dc.contributor.authorStandaert, L
dc.contributor.authorCoucke, P
dc.contributor.authorHoeben, H
dc.contributor.authorKroes, H
dc.contributor.authorVande Walle, J
dc.contributor.authorde Ravel, T
dc.contributor.authorLeroy, B
dc.contributor.authorDe Baere, E
dc.date.accessioned2016-05-18T14:11:05Z
dc.date.available2016-05-18T14:11:05Z
dc.date.issued2010-10
dc.description.abstractLeber Congenital Amaurosis (LCA), the most severe inherited retinal dystrophy, is genetically heterogeneous, with 14 genes accounting for 70% of patients. Here, 91 LCA probands underwent LCA chip analysis and subsequent sequencing of 6 genes (CEP290, CRB1, RPE65, GUCY2D, AIPL1and CRX), revealing mutations in 69% of the cohort, with major involvement of CEP290 (30%). In addition, 11 patients with early-onset retinal dystrophy (EORD) and 13 patients with Senior-Loken syndrome (SLS), LCA-Joubert syndrome (LCA-JS) or cerebello-oculo-renal syndrome (CORS) were included. Exhaustive re-inspection of the overall phenotypes in our LCA cohort revealed novel insights mainly regarding the CEP290-related phenotype. The AHI1 gene was screened as a candidate modifier gene in three patients with the same CEP290 genotype but different neurological involvement. Interestingly, a heterozygous novel AHI1 mutation, p.Asn811Lys, was found in the most severely affected patient. Moreover, AHI1 screening in five other patients with CEP290-related disease and neurological involvement revealed a second novel missense variant, p.His758Pro, in one LCA patient with mild mental retardation and autism. These two AHI1 mutations might thus represent neurological modifiers of CEP290-related disease.pt_PT
dc.identifier.citationHum Mutat. 2010 Oct;31(10):E1709-66pt_PT
dc.identifier.doi10.1002/humu.21336pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/2486
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherWiley-Liss, Incpt_PT
dc.subjectAdaptor Proteins, Signal Transducingpt_PT
dc.subjectAdolescentpt_PT
dc.subjectAdultpt_PT
dc.subjectAntigens, Neoplasmpt_PT
dc.subjectBelgiumpt_PT
dc.subjectChildpt_PT
dc.subjectChild, Preschoolpt_PT
dc.subjectDNA Mutational Analysispt_PT
dc.subjectGene Expression Profilingpt_PT
dc.subjectGenotypept_PT
dc.subjectHumanspt_PT
dc.subjectInfantpt_PT
dc.subjectLeber Congenital Amaurosispt_PT
dc.subjectMiddle Agedpt_PT
dc.subjectNeoplasm Proteinspt_PT
dc.subjectOligonucleotide Array Sequence Analysispt_PT
dc.subjectPhenotypept_PT
dc.subjectProteinspt_PT
dc.subjectRetinal Degenerationpt_PT
dc.subjectRetinal Dystrophiespt_PT
dc.subjectYoung Adultpt_PT
dc.subjectAllelespt_PT
dc.subjectGenetic Testingpt_PT
dc.subjectHDE - GENpt_PT
dc.titleGenetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-Related Phenotypespt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPageE1766pt_PT
oaire.citation.issue10pt_PT
oaire.citation.startPageE1709pt_PT
oaire.citation.titleHuman mutationpt_PT
oaire.citation.volume31pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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