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

被引：87

作者：

Bareil, C

Hamel, CP

Delague, V

Arnaud, B

Demaille, J

Claustres, M

机构：

[1] IURC, Genet Mol Lab, F-34093 Montpellier, France

[2] CNRS, UPR 1142, F-34093 Montpellier, France

[3] Univ Montpellier, Serv Ophtalmol, F-34059 Montpellier, France

[4] Hosp Montpellier, Montpellier, France

来源：

HUMAN GENETICS | 2001年 / 108卷 / 04期

关键词：

D O I：

10.1007/s004390100496

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 theta =0 at the D16S3089 locus). Two candidate genes KIFC3 and CNGB1 mapping to this critical interval has 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.

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页码：328 / 334

页数：7

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