April 2011
Volume 52, Issue 14
Free
ARVO Annual Meeting Abstract  |   April 2011
Treats And Traps Of Homozygosity Mapping: Compound Heterozygosity In Consanguineous Retinal Dystrophy Families
Kinga M. Bujakowska; Isabelle Audo; Saddek Mohand-Saïd; Birgit S. Budde; Marie-Elise Lancelot; Christine Lonjou; Wassila Carpentier; José-Alain Sahel; Shomi S. Bhattacharya; Christina Zeitz
Author Affiliations & Notes
  • Kinga M. Bujakowska
    Department of Genetics, Institut de la Vision, INSERM U968, CNRS, UMR_7210,UPMC UMR_S 968, F75012 Paris, France
  • Isabelle Audo
    Department of Genetics, Institut de la Vision, INSERM U968, CNRS, UMR_7210,UPMC UMR_S 968, F75012 Paris, France
    Centre Hospitalier National d’Ophtalmologie des Quinze-Vingts, INSERM-DHOS CIC 503, Paris, F-75012, France
  • Saddek Mohand-Saïd
    Department of Genetics, Institut de la Vision, INSERM U968, CNRS, UMR_7210,UPMC UMR_S 968, F75012 Paris, France
    Centre Hospitalier National d’Ophtalmologie des Quinze-Vingts, INSERM-DHOS CIC 503, Paris, F-75012, France
  • Birgit S. Budde
    Cologne Center for Genomics, University of Cologne, Cologne, Germany
  • Marie-Elise Lancelot
    Department of Genetics, Institut de la Vision, INSERM U968, CNRS, UMR_7210,UPMC UMR_S 968, F75012 Paris, France
  • Christine Lonjou
    Plate-forme Post-Génomique P3S, Hôpital Pitié-Salpêtrière, Paris, France
  • Wassila Carpentier
    Plate-forme Post-Génomique P3S, Hôpital Pitié-Salpêtrière, Paris, France
  • José-Alain Sahel
    Department of Genetics, Institut de la Vision, INSERM U968, CNRS, UMR_7210,UPMC UMR_S 968, F75012 Paris, France
    Centre Hospitalier National d’Ophtalmologie des Quinze-Vingts, INSERM-DHOS CIC 503; Université Pierre et Marie Curie Fondation Ophtalmologique Adolphe de Rothschild, Paris, France
  • Shomi S. Bhattacharya
    Department of Genetics, Institut de la Vision, INSERM U968, CNRS, UMR_7210,UPMC UMR_S 968, F75012 Paris, France
    Department of Molecular Genetics, Institute of Ophthalmology, UCL, Paris, United Kingdom
  • Christina Zeitz
    Department of Genetics, Institut de la Vision, INSERM U968, CNRS, UMR_7210,UPMC UMR_S 968, F75012 Paris, France
  • Footnotes
    Commercial Relationships  Kinga M. Bujakowska, None; Isabelle Audo, None; Saddek Mohand-Saïd, None; Birgit S. Budde, None; Marie-Elise Lancelot, None; Christine Lonjou, None; Wassila Carpentier, None; José-Alain Sahel, None; Shomi S. Bhattacharya, None; Christina Zeitz, None
  • Footnotes
    Support  KI: Marie Curie Reintegration grant; IA: CDA from the FFB Grant CD-CL-0808-0466-CHNO; CZ (Fondation Voir et Entendre); SB (ANR Chaire d'Excellence); CIC 503 (FFB Center)
Investigative Ophthalmology & Visual Science April 2011, Vol.52, 2371. doi:
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      Kinga M. Bujakowska, Isabelle Audo, Saddek Mohand-Saïd, Birgit S. Budde, Marie-Elise Lancelot, Christine Lonjou, Wassila Carpentier, José-Alain Sahel, Shomi S. Bhattacharya, Christina Zeitz; Treats And Traps Of Homozygosity Mapping: Compound Heterozygosity In Consanguineous Retinal Dystrophy Families. Invest. Ophthalmol. Vis. Sci. 2011;52(14):2371.

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Abstract

Purpose: : To genetically investigate two consanguineous families of French origin with rod-cone dystrophy and Bietti Crystalline Corneoretinal Dystrophy.

Methods: : Patients underwent a full ophthalmic examination (visual acuity, kinetic and static perimetry, colour vision, full-field and multifocal electroretinography, fundus autofluorescence imaging and optical coherence tomography). Informed consent was obtained from each patient and normal individual controls. The study protocol adhered to the tenets of the Declaration of Helsinki and was approved by the local ethics committee. Patients with a precise diagnosis of rod-cone dystrophy or Bietti Crystalline Corneoretinal Dystrophy were screened for genetic defects by homozygosity mapping, linkage analysis and/or direct sequencing.

Results: : In this study we have identified novel mutations in known retinal dystrophy genes USH2A (rod-cone dystrophy) and CYP4V2 (Bietti Crystalline Corneoretinal Dystrophy). Despite consanguinity the affected family members were compound heterozygous for two different mutations in the respective genes.

Conclusions: : Homozygosity mapping is a powerful tool for the identification of novel disease causing variants in consanguineous families. Nonetheless, allelic heterogeneity may occur in such inbred pedigrees.

Keywords: retina • genetics 
© 2011, 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 © 2024 Association for Research in Vision and Ophthalmology.
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