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B.P. Leroy, F. Coppieters, K. Robberecht, D. Beysen, J. Hellemans, P.J. Coucke, E. De Baere; Autosomal Dominant Retinitis Pigmentosa in a Large Belgian Family: Linkage–Based Exclusion Mapping of 14 Known Loci . Invest. Ophthalmol. Vis. Sci. 2006;47(13):3274.
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© ARVO (1962-2015); The Authors (2016-present)
To report on the linkage–based exclusion mapping of candidate genes for autosomal dominant retinitis pigmentosa (ADRP) in a large Belgian family with ADRP.
Genomic DNA from twenty–four affected and twenty–six unaffected individuals of a 4–generation Belgian ADRP family was available for the study. A clinical diagnosis was made either on the basis of a clinical examination or an extensive questionnaire unequivocally differentiating affected from unaffected family members. Linkage–based exclusion analysis was performed using 26 microsatellites closely linked to 14 currently known ADRP genes (CA4, CRX, FSCN2, IMPDH1, NRL, PRPF3, PRPF8, PRPF31, RDS, RHO, ROM1, RP1, RP9, GUCA1B).
Segregation analysis of the 26 markers in affected and unaffected family members allowed exclusion of these 14 known ADRP genes.
The results suggest the involvement of a novel ADRP disease gene as the cause of the phenotype in this family. A genome–wide linkage analysis will be performed to identify this novel locus. Computer simulation of the power of this family predicted significant LOD–scores (> 9) potentially generated from genome–wide linkage analysis.
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