Segregation of a mutation in CNGB1 encoding the β-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa
C Bareil, C Hamel, V Delague, B Arnaud, J Demaille… - Human genetics, 2001 - Springer
C Bareil, C Hamel, V Delague, B Arnaud, J Demaille, M Claustres
Human genetics, 2001•SpringerRetinitis 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 …
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 …
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.
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