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

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 (Z_max=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.

Authors and Affiliations

1. Laboratoire de Génétique Moléculaire, IURC, and CNRS UPR 1142, 641 Avenue du Doyen Gaston Giraud, 34093 Montpellier, France, , , , ,

   Corinne Bareil, Valérie Delague, Jacques Demaille & Mireille Claustres

2. Service d'Ophtalmologie, University and Hospital of Montpellier, Montpellier, France, , , , ,

   Christian Hamel & Bernard Arnaud

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