Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders


The protein encoded by the AHI1 gene, jouberin, is involved in cerebral and cerebellar development. Mutations cause autosomal recessive Joubert syndrome type 3.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type RNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Joubert syndrome 03



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


Jiang X et. al. (2002) Ahi-1, a novel gene encoding a modular protein with WD40-repeat and SH3 domains, is targeted by the Ahi-1 and Mis-2 provirus integrations.


Jiang X et. al. (2004) Deregulated expression in Ph+ human leukemias of AHI-1, a gene activated by insertional mutagenesis in mouse models of leukemia.


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


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


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


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


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


Sheng G et. al. (2008) Huntingtin-associated protein 1 interacts with Ahi1 to regulate cerebellar and brainstem development in mice.


Hsiao YC et. al. (2009) Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking.


Lancaster MA et. al. (2009) Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy.


Ingason A et. al. (2010) A large replication study and meta-analysis in European samples provides further support for association of AHI1 markers with schizophrenia.


Louie CM et. al. (2010) AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.


Lancaster MA et. al. (2011) Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome.


Tuz K et. al. (2013) The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions.


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

Update: Sept. 26, 2018