Clinical features of a Japanese family with autosomal dominant retinitis pigmentosa associated with a Thr494Met mutation in the HPRP3 gene
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To determine the clinical features of a Japanese family with autosomal dominant retinitis pigmentosa (ADRP) associated with a Thr494Met mutation in the HPRP3 gene.
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.
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.
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.
- Chakarova, (2002) Hum Mol Genet 11: pp. 87 CrossRef
- Gonzalez-Santos, (2002) J Biol Chem 277: pp. 23764 CrossRef
- Marmor, (1989) Arch Ophthalmol 107: pp. 816
- Martinez-Gimeno, (2003) Invest Ophthalmol Vis Sci 44: pp. 2171 CrossRef
- McKie, (2001) Hum Mol Genet 10: pp. 1555 CrossRef
- Nakazawa, (1997) Retina 17: pp. 17
- RetNet (2003) Available athttp://www.sph.uth.tmc.edu/Retnet/disease.htm. Accessed 14 May 2003
- Vithana, (2001) Mol Cell 8: pp. 375
- 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, (1997) Hum Mol Genet 6: pp. 2117 CrossRef
- Wada, (2001) Invest Ophthalmol Vis Sci 42: pp. 2395
- Clinical features of a Japanese family with autosomal dominant retinitis pigmentosa associated with a Thr494Met mutation in the HPRP3 gene
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