To report the clinical and functional characteristics of an autosomal dominant retinitis pigmentosa (ADRP) family with a novel point mutation (P2301S) in the PRPF8 gene.
Methods
PRPF8 gene analysis and complete ophthalmologic examination in an ADRP family.
Results
Clinical examination revealed the typical RP phenotype in all family members. Electroretinography showed preserved ERG photopic responses. Genetic analysis showed that the P2301S missense mutation segregated with the disease in all subjects.
Conclusions
Unlike previously reported families, the PRPF8 gene mutation in our family is associated with a mild phenotype in which cone function is partially preserved.
GreenbergJ., GoliathR., BeightonP., RamesarR.A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17. Hum Mol Genet1994; 3: 915–8.
2.
KojisT.L., HeinzmannC., FlodmanP.Map refinement of locus RP13 to human chromosome 17p13.3 in a second family with autosomal dominant retinitis pigmentosa. Am J Hum Genet1996; 58: 347–55.
3.
TarttelinE.E., PlantC., WeissenbachJ., BirdA.C., BhattacharyaS.S., InglehearnC.F.A new family linked to the RP13 locus for autosomal dominant retinitis pigmentosa on distal 17p. J Med Genet1996; 33: 518–20.
4.
McKieA.B., McHaleJ.C., KeenT.J.Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). Hum Mol Genet2001; 10: 1555–62.
5.
van Lith-VerhoevenJ.J., van der Velde-VisserS.D., SohockiM.M.Clinical characterization, linkage analysis, and PRPC8 mutation analysis of a family with autosomal dominant retinitis pigmentosa type 13 (RP13). Ophthalmic Genet2002; 23: 1–12.
6.
Martinez-GimenoM., GamundiM.J., HernanI.Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa. Invest Ophthalmol. Vis Sci2003; 44: 2171–7.
7.
ZivielloC., SimonelliF., TestaF.Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of Italian families. J Med Genet2005; 42: 47–50.
8.
RobsonA.G., EganC.A., LuongV.A., BirdA.C., HolderG.E., FitzkeF.W.Comparison of fundus autofluorescence with photopic and scotopic fine-matrix mapping in patients with retinitis pigmentosa and normal visual acuity. Invest Ophthalmol Vis Sci2004; 45: 4119–25.
9.
ToK., AdamianM., BersonE.L.Histologic study of retinitis pigmentosa due to a mutation in the RP13 gene (PRPC8): comparison with rhodopsin Pro23His, Cys110Arg, and Glu181Lys. Am J Ophthalmol2004; 137: 946–8.
