title: Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa.
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.
authors.affiliation: Laboratoire de Génétique Moléculaire, IURC, and CNRS UPR 1142, Montpellier, France.
authors.forename: C
authors.initials: C
authors.lastname: Bareil
authors.forename: C P
authors.initials: CP
authors.lastname: Hamel
authors.forename: V
authors.initials: V
authors.lastname: Delague
authors.forename: B
authors.initials: B
authors.lastname: Arnaud
authors.forename: J
authors.initials: J
authors.lastname: Demaille
authors.forename: M
authors.initials: M
authors.lastname: Claustres
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D002874:Chromosome Mapping; D020090:Chromosome Segregation; D002885:Chromosomes, Human, Pair 16; D006152:Cyclic GMP; D054815:Cyclic Nucleotide-Gated Cation Channels; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007473:Ion Channels / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000235:genetics*; D012374:Rod Cell Outer Segment
chemical_list: D054815:Cyclic Nucleotide-Gated Cation Channels; D005136:Eye Proteins; D007473:Ion Channels; D006152:Cyclic GMP