Publication
Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-Related Phenotypes
dc.contributor.author | Coppieters, F | |
dc.contributor.author | Casteels, I | |
dc.contributor.author | Meire, F | |
dc.contributor.author | De Jaegere, S | |
dc.contributor.author | Hooghe, S | |
dc.contributor.author | van Regemorter, N | |
dc.contributor.author | Van Esch, H | |
dc.contributor.author | Matuleviciene, A | |
dc.contributor.author | Nunes, L | |
dc.contributor.author | Meersschaut, V | |
dc.contributor.author | Walraedt, S | |
dc.contributor.author | Standaert, L | |
dc.contributor.author | Coucke, P | |
dc.contributor.author | Hoeben, H | |
dc.contributor.author | Kroes, H | |
dc.contributor.author | Vande Walle, J | |
dc.contributor.author | de Ravel, T | |
dc.contributor.author | Leroy, B | |
dc.contributor.author | De Baere, E | |
dc.date.accessioned | 2016-05-18T14:11:05Z | |
dc.date.available | 2016-05-18T14:11:05Z | |
dc.date.issued | 2010-10 | |
dc.description.abstract | Leber 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.citation | Hum Mutat. 2010 Oct;31(10):E1709-66 | pt_PT |
dc.identifier.doi | 10.1002/humu.21336 | pt_PT |
dc.identifier.uri | http://hdl.handle.net/10400.17/2486 | |
dc.language.iso | eng | pt_PT |
dc.peerreviewed | yes | pt_PT |
dc.publisher | Wiley-Liss, Inc | pt_PT |
dc.subject | Adaptor Proteins, Signal Transducing | pt_PT |
dc.subject | Adolescent | pt_PT |
dc.subject | Adult | pt_PT |
dc.subject | Antigens, Neoplasm | pt_PT |
dc.subject | Belgium | pt_PT |
dc.subject | Child | pt_PT |
dc.subject | Child, Preschool | pt_PT |
dc.subject | DNA Mutational Analysis | pt_PT |
dc.subject | Gene Expression Profiling | pt_PT |
dc.subject | Genotype | pt_PT |
dc.subject | Humans | pt_PT |
dc.subject | Infant | pt_PT |
dc.subject | Leber Congenital Amaurosis | pt_PT |
dc.subject | Middle Aged | pt_PT |
dc.subject | Neoplasm Proteins | pt_PT |
dc.subject | Oligonucleotide Array Sequence Analysis | pt_PT |
dc.subject | Phenotype | pt_PT |
dc.subject | Proteins | pt_PT |
dc.subject | Retinal Degeneration | pt_PT |
dc.subject | Retinal Dystrophies | pt_PT |
dc.subject | Young Adult | pt_PT |
dc.subject | Alleles | pt_PT |
dc.subject | Genetic Testing | pt_PT |
dc.subject | HDE - GEN | pt_PT |
dc.title | Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-Related Phenotypes | pt_PT |
dc.type | journal article | |
dspace.entity.type | Publication | |
oaire.citation.endPage | E1766 | pt_PT |
oaire.citation.issue | 10 | pt_PT |
oaire.citation.startPage | E1709 | pt_PT |
oaire.citation.title | Human mutation | pt_PT |
oaire.citation.volume | 31 | pt_PT |
rcaap.rights | openAccess | pt_PT |
rcaap.type | article | pt_PT |