Phenotype of autosomal dominant cone-rod dystrophy due to the R838C mutation of the GUCY2D gene encoding retinal guanylate cyclase-1

Eye

Volumn 21, Issue 9, 2007, Pages 1220-1225

  Smith, M ^a   Whittock, N ^b   Searle, A ^c   Croft, M ^c   Brewer, C ^c   Cole, M ^a  

^a TORBAY HOSPITAL   (United Kingdom)

^b PENINSULA MEDICAL SCHOOL   (United Kingdom)

^c ROYAL DEVON AND EXETER HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GUANYLATE CYCLASE; GUANYLATE CYCLASE 1; GUANYLATE CYCLASE 2D; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT OPTIC ATROPHY; BIOMICROSCOPY; CLINICAL ARTICLE; ELECTRODIAGNOSIS; FAMILY STUDY; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HISTOPATHOLOGY; HUMAN; MALE; MYOPIA; ONSET AGE; PERIMETRY; PHENOTYPE; RETINA DYSTROPHY; RETROSPECTIVE STUDY; SCHOOL CHILD; SCOTOMA; UNITED KINGDOM; VISUAL ACUITY;

EID: 34548543124     PISSN: 0950222X     EISSN: 14765454     Source Type: Journal    
DOI: 10.1038/sj.eye.6702612     Document Type: Article

References (11)

1. Simunovic MP, Moore AT. The cone dystrophies. Eye 1998; 12: 553-565.
2. Kelsell RE, Evans K, Gregory CY, Moore AT, Bird AC, Hunt DM. Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p. Hum Mol Genet 1997; 6(4): 597-600.
3. Kelsell RE, Gregory-Evans K, Payne AM, Perrault I, Kaplan J, Yang RB et al. Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy. Hum Mol Genet 1998; 7 7): 1179-1184.
4. Payne AM, Morris AG, Downes SM, Johnson S, Bird AC, Moore AT et al. Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies. J Med Genet 2001; 38(9): 611-614.
5. Perrault I, Rozet JM, Gerber S, Kelsell RE, Souied E, Cabot A et al. A RETGC-1 mutation in autosomal dominant cone-rod dystrophy. Am J Hum Genet 1998; 63(2): 651-654.
6. Weigell-Weber M, Fokstuen S, Torok B, Niemeyer G, Schinzel A, Hergersberg M. Codons 837 and 838 in the retinal guanylate cyclase gene on chromosome 17p: Hot spots for mutations in autosomal dominant cone-rod dystrophy. Arch Ophthalmol 2000; 118(2): 300.
7. Van Ghelue M, Ericksen HL, Ponjavic V, Fagerhein T, Andreasson S, Forsman-Semb K et al. Autosomal dominant cone-rod dystrophy due to a missense mutation (R838C) in the guanylate cyclase 2D gene (GUCY2D with preserved rod function in one branch of the family. Ophthal Genet 2000; 21(4): 197-209.
8. Tucker CL, Woodcock SC, Kelsell RE, Ramamurthy V, Hunt DM, Hurley JB. Biochemical analysis of a dimerization domain mutation in RETGC-1 associated with dominant cone-rod dystrophy. Proc Natl Acad Sci USA 1999; 96(16): 9039-9044.
9. Wilkie SE, Newbold RJ, Deery E, Walker CE, Stinton I, Ramamurthy V et al. Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone-rod dystrophy. Hum Mol Genet 2000; 9(20): 3065-3073.
10. Hanein S, Perrault I, Gerber S, Tanguy G, Barbet F, Ducroq D et al. Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum Mutat 2004; 23(4): 306-317.
11. Downes SM, Payne AM, Kelsell RE, Fitzke FW, Holder GE, Hunt DM et al. Autosomal dominant cone-rod dystrophy with mutations in the guanylate cyclase 2D gene encoding retinal guanylate cyclase-1. Arch Ophthalmol 2001; 119(11): 1667-1673.