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 |
Verknüpfte Erkrankungen:
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
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19. |
NCBI article
NCBI 1406
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20. |
OMIM.ORG article
Omim 602225
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Update: 14. August 2020