Human Genetics

, Volume 108, Issue 4, pp 328–334

Segregation of a mutation in CNGB1 encoding the β-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa

Authors

  • Corinne Bareil
    • Laboratoire de Génétique Moléculaire, IURC, and CNRS UPR 1142, 641 Avenue du Doyen Gaston Giraud, 34093 Montpellier, France
  • Christian Hamel
    • Service d'Ophtalmologie, University and Hospital of Montpellier, Montpellier, France
  • Valérie Delague
    • Laboratoire de Génétique Moléculaire, IURC, and CNRS UPR 1142, 641 Avenue du Doyen Gaston Giraud, 34093 Montpellier, France
  • Bernard Arnaud
    • Service d'Ophtalmologie, University and Hospital of Montpellier, Montpellier, France
  • Jacques Demaille
    • Laboratoire de Génétique Moléculaire, IURC, and CNRS UPR 1142, 641 Avenue du Doyen Gaston Giraud, 34093 Montpellier, France
  • Mireille Claustres
    • Laboratoire de Génétique Moléculaire, IURC, and CNRS UPR 1142, 641 Avenue du Doyen Gaston Giraud, 34093 Montpellier, France
Original investigation

DOI: 10.1007/s004390100496

Cite this article as:
Bareil, C., Hamel, C., Delague, V. et al. Hum Genet (2001) 108: 328. doi:10.1007/s004390100496

Abstract.

Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of retinal diseases leading to blindness. By performing full genome linkage analysis in a consanguineous French family affected with severe autosomal recessive RP, we have excluded linkage to known loci involved in RP and mapped a novel locus to chromosome 16q13-q21 (Zmax=2.83 at θ=0 at the D16S3089 locus). Two candidate genes KIFC3 and CNGB1 mapping to this critical interval have been screened for mutations. The CNGB1 gene, which encodes the β-subunit of the rod cGMP-gated channel, is mutated in the family presented in this study.

Copyright information

© Springer-Verlag 2001