Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

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

Verknüpfte Erkrankungen:

Lebersche kongenitale Amaurose 07
CRX

Referenzen:

1.

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

[^]
2.

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.

[^]
3.

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

[^]
4.

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

[^]
5.

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

[^]
6.

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.

[^]
7.

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

[^]
8.

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

[^]
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.

[^]
10.

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

[^]
11.

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

[^]
12.

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

[^]
13.

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.

[^]
14.

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

[^]
15.

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

[^]
16.

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

[^]
17.

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

[^]
Update: 26. September 2018