Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Protein-Crumbs-Homolog 1

Das CRB1-Gen kodiert ein Protein des Photorezeptors. Mutationen verursachen autosomal rezessive Lebersche kongenitale Amaurose Typ 8.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Lebersche kongenitale Amaurose 08
CRB1

Referenzen:

1.

Hanein S et. al. (2004) Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.

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2.

Bleeker-Wagemakers LM et. al. (1992) Evidence for nonallelic genetic heterogeneity in autosomal recessive retinitis pigmentosa.

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3.

Vidaud D et. al. (1993) Haemophilia B due to a de novo insertion of a human-specific Alu subfamily member within the coding region of the factor IX gene.

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4.

Diatchenko L et. al. (1996) Suppression subtractive hybridization: a method for generating differentially regulated or tissue-specific cDNA probes and libraries.

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5.

den Hollander AI et. al. (1999) Isolation and mapping of novel candidate genes for retinal disorders using suppression subtractive hybridization.

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6.

den Hollander AI et. al. (1999) Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).

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7.

Lotery AJ et. al. (2001) Mutations in the CRB1 gene cause Leber congenital amaurosis.

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8.

den Hollander AI et. al. (2001) Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene.

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9.

den Hollander AI et. al. (2001) CRB1 has a cytoplasmic domain that is functionally conserved between human and Drosophila.

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10.

Bachmann A et. al. (2001) Drosophila Stardust is a partner of Crumbs in the control of epithelial cell polarity.

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11.

Izaddoost S et. al. (2002) Drosophila Crumbs is a positional cue in photoreceptor adherens junctions and rhabdomeres.

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12.

Pellikka M et. al. (2002) Crumbs, the Drosophila homologue of human CRB1/RP12, is essential for photoreceptor morphogenesis.

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13.

Roh MH et. al. (2002) The Maguk protein, Pals1, functions as an adapter, linking mammalian homologues of Crumbs and Discs Lost.

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14.

Gerber S et. al. (2002) A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis.

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15.

Jacobson SG et. al. (2003) Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination.

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16.

Mehalow AK et. al. (2003) CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina.

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17.

den Hollander AI et. al. (2004) CRB1 mutation spectrum in inherited retinal dystrophies.

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18.

McKay GJ et. al. (2005) Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene.

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19.

Abouzeid H et. al. (2006) A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis.

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20.

Benayoun L et. al. (2009) Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping.

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21.

Henderson RH et. al. (2011) Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1.

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22.

Bujakowska K et. al. (2012) CRB1 mutations in inherited retinal dystrophies.

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Update: 26. September 2018