Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Zapfen-Stäbchen-Homeobox-Protein

Das CRX-Gen kodiert ein Photorezeptor-spezifischen Transkriptionsfaktor. Mutationen verursachen autosomal rezessive oder dominante Lebersche kongenitale Amaurose Typ 7.

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 07
CRX

Referenzen:

1.

Freund CL et al. (1998) De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis.

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2.

Paunescu K et al. (2007) Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame.

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3.

Akagi T et al. (2004) Otx2 homeobox gene induces photoreceptor-specific phenotypes in cells derived from adult iris and ciliary tissue.

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4.

Itabashi T et al. (2004) Novel 615delC mutation in the CRX gene in a Japanese family with cone-rod dystrophy.

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5.

Nishida A et al. (2003) Otx2 homeobox gene controls retinal photoreceptor cell fate and pineal gland development.

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6.

Chen S et al. (2004) Interference of Crx-dependent transcription by ataxin-7 involves interaction between the glutamine regions and requires the ataxin-7 carboxy-terminal region for nuclear localization.

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7.

Chen S et al. (2002) Functional analysis of cone-rod homeobox (CRX) mutations associated with retinal dystrophy.

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8.

Gamse JT et al. (2002) Otx5 regulates genes that show circadian expression in the zebrafish pineal complex.

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9.

Rivolta C et al. (2001) Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX.

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10.

La Spada AR et al. (2001) Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7.

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11.

Furukawa T et al. (1999) Retinopathy and attenuated circadian entrainment in Crx-deficient mice.

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12.

Sohocki MM et al. (1998) A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.

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13.

Swain PK et al. (1997) Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration.

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14.

Freund CL et al. (1997) Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor.

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15.

Nakamura M et al. (2002) Novel de novo mutation in CRX gene in a Japanese patient with leber congenital amaurosis.

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16.

Swaroop A et al. (1999) Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function.

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17.

Furukawa T et al. (1997) Crx, a novel otx-like homeobox gene, shows photoreceptor-specific expression and regulates photoreceptor differentiation.

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18.

Orphanet article

Orphanet ID 120822 external link
19.

NCBI article

NCBI 1406 external link
20.

OMIM.ORG article

Omim 602225 external link
Update: 14. August 2020
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