Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Cone-rod homeobox protein

The CRX gene encodes a photoreceptor specific transcription factor. Mutations cause autosomal recessive or dominant Leber congenital amaurosis type 7.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Leber congenital amaurosis 07
CRX

References:

1.

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

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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.

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3.

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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4.

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

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5.

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

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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.

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7.

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

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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.

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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.

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

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11.

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

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12.

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

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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.

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14.

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

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15.

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

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16.

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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17.

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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Update: Sept. 26, 2018