Retinale Guanulatzyklase 1
Das GUCY2D-Gen kodiert eine Retina spezifische Gunanylatzyklase. Mutationen verursachen autosomal rezessive Lebersche kongenitale Amaurose Typ 1.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Camuzat A et al. (1995) A gene for Leber's congenital amaurosis maps to chromosome 17p.
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2. |
Ugur Iseri SA et al. (2010) A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis.
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3. |
Udar N et al. (2003) Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance.
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4. |
Downes SM et al. (2001) Autosomal dominant cone-rod dystrophy with mutations in the guanylate cyclase 2D gene encoding retinal guanylate cyclase-1.
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5. |
Payne AM et al. (2001) Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies.
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6. |
Wilkie SE et al. (2000) Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone-rod dystrophy.
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7. |
Perrault I et al. (2000) Spectrum of retGC1 mutations in Leber's congenital amaurosis.
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8. |
Weigell-Weber M et al. (2000) Codons 837 and 838 in the retinal guanylate cyclase gene on chromosome 17p: hot spots for mutations in autosomal dominant cone-rod dystrophy?
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9. |
Gregory-Evans K et al. (2000) Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase.
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10. |
Duda T et al. (1999) Functional consequences of a rod outer segment membrane guanylate cyclase (ROS-GC1) gene mutation linked with Leber's congenital amaurosis.
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11. |
Perrault I et al. (1998) A retGC-1 mutation in autosomal dominant cone-rod dystrophy.
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12. |
Kelsell RE et al. (1998) Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.
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13. |
Kelsell RE et al. (1997) Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p.
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14. |
Yang RB et al. (1996) Chromosomal localization and genomic organization of genes encoding guanylyl cyclase receptors expressed in olfactory sensory neurons and retina.
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15. |
Small KW et al. (1996) Clinical study of a large family with autosomal dominant progressive cone degeneration.
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16. |
Yang RB et al. (1995) Two membrane forms of guanylyl cyclase found in the eye.
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17. |
Oliveira L et al. (1994) Human retinal guanylate cyclase (GUC2D) maps to chromosome 17p13.1.
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18. |
Shyjan AW et al. (1992) Molecular cloning of a retina-specific membrane guanylyl cyclase.
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19. |
Khan AO et al. (2014) Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay.
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20. |
Hanein S et al. (2002) Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin.
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21. |
Perrault I et al. (1996) Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis.
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22. |
Camuzat A et al. (1996) Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13.
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23. |
Azadi S et al. (2010) RD3, the protein associated with Leber congenital amaurosis type 12, is required for guanylate cyclase trafficking in photoreceptor cells.
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24. |
NCBI article
NCBI 3000
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25. |
OMIM.ORG article
Omim 600179
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26. |
Orphanet article
Orphanet ID 122340
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Update: 14. August 2020