Clinical features of a Japanese family with autosomal dominant retinitis pigmentosa associated with a Thr494Met mutation in the HPRP3 gene

  • Yuko Wada
  • Toshitaka Itabashi
  • Hajime Sato
  • Makoto Tamai
Short Communication

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.

References

  1. 1.
    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 11:87–92CrossRefPubMedGoogle Scholar
  2. 2.
    Gonzalez-Santos JM, Wang A, Jones J, et al (2002) Central region of the human splicing factor Hprp3p interacts with Hprp4p. J Biol Chem 277:23764–23772CrossRefPubMedGoogle Scholar
  3. 3.
    Marmor MF, Arden GB, Nilson SEG, Zrenner E (1989) Standard for clinical electroretinography. Arch Ophthalmol 107:816–819PubMedGoogle Scholar
  4. 4.
    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 44:2171–2177CrossRefPubMedGoogle Scholar
  5. 5.
    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 10:1555–1562CrossRefPubMedGoogle Scholar
  6. 6.
    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 17:17–22PubMedGoogle Scholar
  7. 7.
    RetNet (2003) Available athttp://www.sph.uth.tmc.edu/Retnet/disease.htm. Accessed 14 May 2003
  8. 8.
    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 8:375–381PubMedGoogle Scholar
  9. 9.
    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 319–322Google Scholar
  10. 10.
    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 6:2117–2126CrossRefPubMedGoogle Scholar
  11. 11.
    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 42:2395–2410PubMedGoogle Scholar

Copyright information

© Springer-Verlag 2004

Authors and Affiliations

  • Yuko Wada
    • 1
  • Toshitaka Itabashi
    • 1
  • Hajime Sato
    • 1
  • Makoto Tamai
    • 1
  1. 1.Department of OphthalmologyTohoku University School of MedicineSendai Japan

Personalised recommendations