Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Nephronophthisis 06

Nephronophthisis type 6 is an autosomal recessive disorder caused by mutations in the CEP290 gene.

Systematic

Nephronophthisis
Nephronophthisis 01
Nephronophthisis 02
Nephronophthisis 03
Nephronophthisis 04
Nephronophthisis 05
Nephronophthisis 06
CEP290
Nephronophthisis 07
Nephronophthisis 08
Nephronophthisis 09
Nephronophthisis 10
Nephronophthisis 11
Nephronophthisis 12
Nephronophthisis 13
Nephronophthisis 14
Nephronophthisis 15
Nephronophthisis 16
Nephronophthisis 17
Nephronophthisis 18
Nephronophthisis 19
Nephronophthisis 20
Nephronophthisis-like nephropathy 1

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 [^]
Update: April 29, 2019