May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
Comprehensive Screening of Causative Genes for Sporadic or Non-Mendelian Patients With Retinitis Pigmentosa
Author Affiliations & Notes
  • Z.-B. Jin
    Laboratory for Retinal Regeneration, RIKEN Center for Developmental Biology, Kobe, Japan
  • M. Mandai
    Laboratory for Retinal Regeneration, RIKEN Center for Developmental Biology, Kobe, Japan
    Department of Experimental Therapeutics, Translational Research Center, Department of Ophthalmology,
    Kyoto University Hospital, Kyoto, Japan
  • Y. Hirami
    Laboratory for Retinal Regeneration, RIKEN Center for Developmental Biology, Kobe, Japan
    Department of Experimental Therapeutics, Translational Research Center, Department of Ophthalmology,
    Graduate School of Medicine, Kyoto University, Kyoto, Japan
  • T. Yokota
    Department of Experimental Therapeutics, Translational Research Center, Department of Ophthalmology,
    Kyoto University Hospital, Kyoto, Japan
  • K. Higuchi
    Department of Clinical Laboratory, Department of Medical Ethics,
    Kyoto University Hospital, Kyoto, Japan
  • F. Ohtsuki
    Department of Experimental Therapeutics, Translational Research Center, Department of Ophthalmology,
    Kyoto University Hospital, Kyoto, Japan
  • Y. Wada
    Wada-Yuko Eye Clinic, Sendai, Japan
  • M. Takahashi
    Laboratory for Retinal Regeneration, RIKEN Center for Developmental Biology, Kobe, Japan
    Department of Experimental Therapeutics, Translational Research Center, Department of Ophthalmology,
    Kyoto University Hospital, Kyoto, Japan
  • N. Yoshimura
    Department of Experimental Therapeutics, Translational Research Center, Department of Ophthalmology,
    Graduate School of Medicine, Kyoto University, Kyoto, Japan
  • S. Kosugi
    Department of Clinical Laboratory, Department of Medical Ethics,
    Graduate School of Medicine, Kyoto University, Kyoto, Japan
  • Footnotes
    Commercial Relationships  Z. Jin, None; M. Mandai, None; Y. Hirami, None; T. Yokota, None; K. Higuchi, None; F. Ohtsuki, None; Y. Wada, None; M. Takahashi, None; N. Yoshimura, None; S. Kosugi, None.
  • Footnotes
    Support  This work was supported by Grants-in-Aid from MEXT and the Leading Project to M.T.
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 4009. doi:https://doi.org/
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      Z.-B. Jin, M. Mandai, Y. Hirami, T. Yokota, K. Higuchi, F. Ohtsuki, Y. Wada, M. Takahashi, N. Yoshimura, S. Kosugi; Comprehensive Screening of Causative Genes for Sporadic or Non-Mendelian Patients With Retinitis Pigmentosa. Invest. Ophthalmol. Vis. Sci. 2008;49(13):4009. doi: https://doi.org/.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: : More than half of the retinitis pigmentosa (RP) cases are genetically simplex or multiplex. To date, 37 causative genes of RP have been identified; however, the elucidation of gene defects in simplex or multiplex RP patients/families remains problematic. The aim of our study was to identify the genetic causes of RP in patients with unknown or non-Mendelian inheritance.

Methods: : Since 2003, 52 simplex (sporadic) RP patients, 151 patients from 141 multiplex (non-Mendelian inheritance) RP families, 6 sporadic patients with retinal degeneration were studied. A total of 108 exons of 30 RP-causing genes that harbored the reported mutations were screened by an efficient denaturing high-performance liquid chromatography (dHPLC)-based assay. Aberrant fragments were subsequently analyzed by automatic sequencing.

Results: : Twenty-six mutations, including 2 frameshift mutations, one single amino acid deletion, and 23 missense mutations, were identified in 28 probands (14.07%). Eighteen mutations have not been reported to date. Three pairs of combined mutations in different genes were identified in 2 sporadic cases and 1 multiplex family, indicating the possibility of novel digenic patterns.

Conclusions: : We elucidated the mutation spectrum in Japanese RP patients and demonstrated the validity of the mutation detection system using dHPLC-sequencing for genetic diagnosis in RP patients independent of familial incidence, which may provide a model strategy for identifying genetic causes in other diseases linked to a wide range of genes.

Keywords: gene screening • mutations • retinal degenerations: hereditary 
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