دورية أكاديمية
Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-Related Phenotypes
| العنوان: | Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-Related Phenotypes |
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| المؤلفون: | Coppieters, F, Casteels, I, Meire, F, De Jaegere, S, Hooghe, S, van Regemorter, N, Van Esch, H, Matuleviciene, A, Nunes, L, Meersschaut, V, Walraedt, S, Standaert, L, Coucke, P, Hoeben, H, Kroes, H, Vande Walle, J, de Ravel, T, Leroy, B, De Baere, E |
| بيانات النشر: | Wiley-Liss, Inc |
| سنة النشر: | 2010 |
| المجموعة: | Repositório do Centro Hospitalar de Lisboa Central EPE |
| مصطلحات موضوعية: | Adaptor Proteins, Signal Transducing, Adolescent, Adult, Antigens, Neoplasm, Belgium, Child, Preschool, DNA Mutational Analysis, Gene Expression Profiling, Genotype, Humans, Infant, Leber Congenital Amaurosis, Middle Aged, Neoplasm Proteins, Oligonucleotide Array Sequence Analysis, Phenotype, Proteins, Retinal Degeneration, Retinal Dystrophies, Young Adult, Alleles, Genetic Testing, HDE - GEN |
| الوصف: | 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. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | Hum Mutat. 2010 Oct;31(10):E1709-66; http://hdl.handle.net/10400.17/2486Test |
| DOI: | 10.1002/humu.21336 |
| الإتاحة: | https://doi.org/10.1002/humu.21336Test http://hdl.handle.net/10400.17/2486Test |
| حقوق: | openAccess |
| رقم الانضمام: | edsbas.D407BF63 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1002/humu.21336 |
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