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.

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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3.

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

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4.

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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5.

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

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6.

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

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7.

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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8.

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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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

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

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15.

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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16.

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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17.

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

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18.

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

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19.

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

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20.

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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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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23.

OMIM.ORG article

Omim 604210 [^]
24.

Orphanet article

Orphanet ID 120803 [^]
25.

NCBI article

NCBI 23418 [^]
Update: 9. Mai 2019