May 2006
Volume 47, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2006
Identification of Mutations in IMPDH1 in a Cohort of 96 Recessive RP Patients
N.H. Waseem; A. Ortiz; C. Maubaret; A. Kennan; P. Humphries; S. Daiger; A. Webster; S. Jenkins; A.C. Bird; S.S. Bhattacharya
Author Affiliations & Notes
  • N.H. Waseem
    Department of Molecular Genetics, Institute of Ophthalmology, London, United Kingdom
  • A. Ortiz
    Department of Molecular Genetics, Institute of Ophthalmology, London, United Kingdom
  • C. Maubaret
    Department of Molecular Genetics, Institute of Ophthalmology, London, United Kingdom
  • A. Kennan
    Department of Genetics, Ocular Genetics Unit, Trinity College, Dublin, Ireland
  • P. Humphries
    Department of Genetics, Ocular Genetics Unit, Trinity College, Dublin, Ireland
  • S. Daiger
    University of Texas Heath Science Center, Human Genetics Center, Houston, TX
  • A. Webster
    Moorfields Eye Hospital, London, United Kingdom
  • S. Jenkins
    Moorfields Eye Hospital, London, United Kingdom
  • A.C. Bird
    Moorfields Eye Hospital, London, United Kingdom
  • S.S. Bhattacharya
    Department of Molecular Genetics, Institute of Ophthalmology, London, United Kingdom
  • Footnotes
    Commercial Relationships  N.H. Waseem, None; A. Ortiz, None; C. Maubaret, None; A. Kennan, None; P. Humphries, None; S. Daiger, None; A. Webster, None; S. Jenkins, None; A.C. Bird, None; S.S. Bhattacharya, None.
  • Footnotes
    Support  The Special Trustees of Moorfields Eye Hospital
Investigative Ophthalmology & Visual Science May 2006, Vol.47, 5800. doi:
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      N.H. Waseem, A. Ortiz, C. Maubaret, A. Kennan, P. Humphries, S. Daiger, A. Webster, S. Jenkins, A.C. Bird, S.S. Bhattacharya; Identification of Mutations in IMPDH1 in a Cohort of 96 Recessive RP Patients . Invest. Ophthalmol. Vis. Sci. 2006;47(13):5800.

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Abstract

Purpose: : Mutations identified so far in IMPDH1 results in autosomal dominant form of retinitis pigmentosa. Although IMPDH1 is the predominant isoform in the murine retina, homozygous deletion of IMPDH1 in mice causes only a mild retinopathy. For this reason we screened IMPDH1 in a cohort of 96 autosomal recessive form of RP (arRP).

Methods: : Exons 1–17 along with the flanking regions were screened by direct sequencing of PCR products. A newly identified 17bp exon between exon 13 and 14 was also screened.

Results: : Two heterozygous changes were identified in two individuals. One heterozygous missense change was identified in exon11 (His285Arg) in an arRP patient and a 3bp deletion was observed in exon 2 in a 53year old female. These changes were not present in 192 control DNAs

Conclusions: : Gene inversions, deletion and duplications will be missed by the present screening procedure. With this limitation in mind, only two individuals in our cohort of 96 arRP patients carry two heterozygous changes in IMPDH1.

Keywords: retinitis • gene screening • mutations 
© 2006, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. Permission to republish any abstract or part of an abstract in any form must be obtained in writing from the ARVO Office prior to publication.
Copyright © 2025 Association for Research in Vision and Ophthalmology.
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