Abstract
Purpose
To determine the clinical features of a Japanese family with autosomal dominant retinitis pigmentosa (ADRP) associated with a Thr494Met mutation in the HPRP3 gene.
Methods
Mutational screening by direct sequencing was performed on 96 unrelated patients with ADRP. The clinical features were determined by visual acuity, slit-lamp biomicroscopy, electroretinography, fluorescein angiography, and kinetic visual field testing.
Results
A Thr494Met mutation in the HPRP3 gene was found in one family and it cosegregated with ADRP in the three affected members. The ophthalmic findings were those of typical retinitis pigmentosa with rapid progression after 40-years-of-age. One patient also had retinoblastoma as a child.
Conclusion
We conclude that the Thr494Met mutation in the HPRP3 gene causes ADRP in Japanese patients. This mutation was found in 1% of patients with ADRP in Japan.
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References
Chakarova CF, Hims MM, Bolz H, et al (2002) Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. Hum Mol Genet 11:87–92
Gonzalez-Santos JM, Wang A, Jones J, et al (2002) Central region of the human splicing factor Hprp3p interacts with Hprp4p. J Biol Chem 277:23764–23772
Marmor MF, Arden GB, Nilson SEG, Zrenner E (1989) Standard for clinical electroretinography. Arch Ophthalmol 107:816–819
Martinez-Gimeno M, Gamundi MJ, Hernan I, Maseras M, et al (2003) Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 44:2171–2177
McKie AB, McHale JC, Keen TJ, et al (2001) Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). Hum Mol Genet 10:1555–1562
Nakazawa M, Wada Y, Fuchs S, Gal A, and Tamai M (1997) Oguchi disease: phenotypic characteristics of patients with the frequent 1147delA mutation in the arrestin gene. Retina 17:17–22
RetNet (2003) Available athttp://www.sph.uth.tmc.edu/Retnet/disease.htm. Accessed 14 May 2003
Vithana EN, Abu-Safieh L, Allen MJ,et al (2001) A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). Mol Cell 8:375–381
Wada Y, Nakazawa M, and Tamai M (1997) A patient with progressive retinal degeneration associated with homozygous 1147delA mutation in the arrestin gene. In: LaVail M, Anderson R, Hollyfield J (eds) Degenerative retina diseases. Plenum, New York, pp 319–322
Wang A, Forman-Kay J, Luo Y, et al (1997) Identification and characterization of human genes encoding Hprp3p and Hprp4p, interacting components of the spliceosome. Hum Mol Genet 6:2117–2126
Wada Y, Abe T, Takeshita T, Sato T, Tamai M (2001) Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 42:2395–2410
Acknowledgements
This study was supported in part by a grant from the Research Committee on Chorioretinal Degenerations and Optic Atrophy, the Ministry of Health, Labour and Welfare of the Japanese Government (Dr. Ishibashi), Tokyo, Japan, and a Grant-In-Aid for Scientific Research from the Ministry of Education, Science, and Culture of the Japanese Government (Dr. Wada, A-14704044), Tokyo, Japan.
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Wada, Y., Itabashi, T., Sato, H. et al. Clinical features of a Japanese family with autosomal dominant retinitis pigmentosa associated with a Thr494Met mutation in the HPRP3 gene. Graefe's Arch Clin Exp Ophthalmol 242, 956–961 (2004). https://doi.org/10.1007/s00417-004-0923-x
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DOI: https://doi.org/10.1007/s00417-004-0923-x