Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Retinale Guanulatzyklase 1

Das GUCY2D-Gen kodiert eine Retina spezifische Gunanylatzyklase. Mutationen verursachen autosomal rezessive Lebersche kongenitale Amaurose Typ 1.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

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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