Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Joubert syndrome 05

Joubert syndrome 5 is an autosomal recessive disorder caused by mutations of the CEP290 gene.

Systematic

Joubert syndrome
Joubert syndrome 01
Joubert syndrome 02
Joubert syndrome 03
Joubert syndrome 04
Joubert syndrome 05
CEP290
Joubert syndrome 06
Joubert syndrome 07
Joubert syndrome 08
Joubert syndrome 09
Joubert syndrome 10
Joubert syndrome 11
Joubert syndrome 12
Joubert syndrome 13
Joubert syndrome 14
Joubert syndrome 15
Joubert syndrome 16
Joubert syndrome 17
Joubert syndrome 18
Joubert syndrome 19
Joubert syndrome 20
Joubert syndrome 21
Joubert syndrome 22
Joubert syndrome 23
Joubert syndrome 24
Joubert syndrome 25
Joubert syndrome 26
Joubert syndrome 27
Joubert syndrome 28
Joubert syndrome 29
Joubert syndrome 30
Joubert syndrome 31
Joubert syndrome 32
Joubert syndrome 33
Joubert syndrome 34
Joubert syndrome 35

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.

Utsch B et al. (2006) Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome.

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3.

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

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4.

Bachmann-Gagescu R et al. (2015) Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

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5.

Andersen JS et al. (2003) Proteomic characterization of the human centrosome by protein correlation profiling.

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6.

Gleeson JG et al. (2004) Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.

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7.

OMIM.ORG article

Omim 610188 [^]
Update: April 29, 2019