Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Joubert syndrome 03

Joubert syndrome 3 is an autosomal recessive disorder caused by mutations of the AHI1 gene.

Systematic

Joubert syndrome
Joubert syndrome 01
Joubert syndrome 02
Joubert syndrome 03
AHI1
Joubert syndrome 04
Joubert syndrome 05
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
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Joubert syndrome 17
Joubert syndrome 18
Joubert syndrome 19
Joubert syndrome 20
Joubert syndrome 21
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Joubert syndrome 23
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Joubert syndrome 25
Joubert syndrome 26
Joubert syndrome 27
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Joubert syndrome 29
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Joubert syndrome 31
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Joubert syndrome 33
Joubert syndrome 34
Joubert syndrome 35

References:

1.

Najmabadi H et al. (2011) Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

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2.

Ferland RJ et al. (2004) Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.

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3.

Dixon-Salazar T et al. (2004) Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.

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4.

Parisi MA et al. (2006) AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.

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5.

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

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6.

Valente EM et al. (2006) AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.

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7.

Elsayed SM et al. (2015) Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.

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8.

Boltshauser E et al. (1977) Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis.

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9.

Valente EM et al. (2005) Distinguishing the four genetic causes of Jouberts syndrome-related disorders.

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10.

Lagier-Tourenne C et al. (2004) Homozygosity mapping of a third Joubert syndrome locus to 6q23.

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11.

OMIM.ORG article

Omim 608629 [^]
Update: May 9, 2019