Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.
The dominant cone-rod dystrophy gene CORD6 has previously been mapped to within an 8 cM interval on chromosome 17p12-p13. The retinal-specific guanylate cyclase gene (RETGC-1), which maps to within this genetic interval and previously was implicated in Leber's congenital amaurosis, was screened for mutations within this family and in a panel of small families and individuals with various cone and cone- rod dystrophy phenotypes. A missense mutation (E837D) was identified in affected members of the CORD6 family, as well as a second missense mutation (R838C) in three other families with dominant cone-rod dystrophy. RETGC-1 is only the fourth gene to be implicated in cone-rod dystrophy and this is the first report of dominant mutations in this gene.
Kelsell
R E
RE
Department of Molecular Genetics, Institute of Ophthalmology, University College London, Bath Street, London EC1V 9EL, UK.
Gregory-Evans
K
K
Payne
A M
AM
Perrault
I
I
Kaplan
J
J
Yang
R B
RB
Garbers
D L
DL
Bird
A C
AC
Moore
A T
AT
Hunt
D M
DM
D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D002648:Child; D005260:Female; D006162:Guanylate Cyclase / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D015418:Optic Atrophies, Hereditary / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D017949:Retinal Cone Photoreceptor Cells / Q000201:enzymology / Q000473:pathology*; D017948:Retinal Rod Photoreceptor Cells / Q000201:enzymology / Q000473:pathology*
D006162:Guanylate Cyclase