Exclusion of five subunits of cGMP phosphodiesterase in Leber's congenital amaurosis
- 16 March 1998
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 102 (3) , 322-326
- https://doi.org/10.1007/s004390050699
Abstract
Leber’s congenital amaurosis (LCA) is the earliest and most severe of all inherited retinal dystrophies. Recently, we mapped an LCA gene to chromosome 17p13.1 (LCA1) and ascribed the disease to mutations of the retinal guanylate cyclase (ret GC) gene in a subset of families of North African ancestry. Owing to the genetic heterogeneity of LCA and considering that LCA1 results from an impaired production of cGMP in the retina (with permanent closure of cGMP-gated cation channels), we hypothesized that the activation of the cGMP phosphodiesterase (PDE) could trigger the disease by lowering the intracellular cGMP level in the retina. The rod and cone cGMP-PDE inhibitory subunits were regarded therefore as candidate genes in LCA. Here, we report the exclusion of five rod and cone cGMP-PDE subunits in LCA families unlinked to chromosome 17p13.Keywords
This publication has 3 references indexed in Scilit:
- Autosomal recessive retinitis pigmentosa caused by mutations in the α subunit of rod cGMP phosphodiesteraseNature Genetics, 1995
- Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa.Proceedings of the National Academy of Sciences, 1995
- Genomic organization and complete sequence of the human gene encoding the β-subunit of the cGMP phosphodiesterase and its localisation to 4p16.3Nucleic Acids Research, 1991