Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

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
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Lebersche kongenitale Amaurose 01
GUCY2D

Referenzen:

1.

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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2.

Shyjan AW et. al. (1992) Molecular cloning of a retina-specific membrane guanylyl cyclase.

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3.

Camuzat A et. al. (1995) A gene for Leber's congenital amaurosis maps to chromosome 17p.

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4.

Oliveira L et. al. (1994) Human retinal guanylate cyclase (GUC2D) maps to chromosome 17p13.1.

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5.

Yang RB et. al. (1995) Two membrane forms of guanylyl cyclase found in the eye.

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6.

Small KW et. al. (1996) Clinical study of a large family with autosomal dominant progressive cone degeneration.

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7.

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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8.

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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9.

Perrault I et. al. (1996) Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis.

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10.

Kelsell RE et. al. (1997) Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p.

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11.

Kelsell RE et. al. (1998) Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.

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12.

Perrault I et. al. (1998) A retGC-1 mutation in autosomal dominant cone-rod dystrophy.

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13.

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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14.

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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15.

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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16.

Perrault I et. al. (2000) Spectrum of retGC1 mutations in Leber's congenital amaurosis.

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17.

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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18.

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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19.

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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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.

Udar N et. al. (2003) Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance.

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22.

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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23.

Khan AO et. al. (2014) Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay.

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Update: 26. September 2018