Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Centrosomal protein, 290-KD

The gene CEP290 encodes nephrocystin-6 a centrosomal protein. Mutations cause various autosomal recessive disorders including nephronophtisis 6, Leber congenital amaurosis 10, Joubert syndrome 5, Meckel syndrome 4, Senior-Loken syndrome 6 and Bardet-Biedl syndrome 14.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 20 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Nephronophthisis 06
CEP290
Bardet-Biedl syndrome 14
CEP290
Senior-Loken syndrome 6
CEP290
Leber congenital amaurosis 10
CEP290
Joubert syndrome 05
CEP290

References:

1.

Sayer JA et al. (2006) The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.

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2.

Valente EM et al. (2006) Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.

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3.

OMIM.ORG article

Omim 610142 [^]
4.

NCBI article

NCBI 80184 [^]
5.

Orphanet article

Orphanet ID 119343 [^]
6.

Wikipedia article

Wikipedia EN (CEP290) [^]
Update: April 29, 2019