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

C Bareil; C P Hamel; V Delague; B Arnaud; J Demaille; M Claustres

doi:10.1007/s004390100496

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

Hum Genet. 2001 Apr;108(4):328-34. doi: 10.1007/s004390100496.

Authors

C Bareil¹, C P Hamel, V Delague, B Arnaud, J Demaille, M Claustres

Affiliation

¹ Laboratoire de Génétique Moléculaire, IURC, and CNRS UPR 1142, Montpellier, France.

PMID: 11379879
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 theta=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 beta-subunit of the rod cGMP-gated channel, is mutated in the family presented in this study.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Amino Acid Sequence
Animals
Chromosome Mapping
Chromosome Segregation*
Chromosomes, Human, Pair 16*
Cyclic GMP*
Cyclic Nucleotide-Gated Cation Channels
Eye Proteins / genetics*
Female
Genes, Recessive*
Humans
Ion Channels / genetics*
Male
Molecular Sequence Data
Mutation
Pedigree
Retinitis Pigmentosa / genetics*
Rod Cell Outer Segment*

Substances

Cyclic Nucleotide-Gated Cation Channels
Eye Proteins
Ion Channels
Cyclic GMP