RGD Reference Report - Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. - Rat Genome Database

Send us a Message

Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.

Authors: Dixon-Salazar, T  Silhavy, JL  Marsh, SE  Louie, CM  Scott, LC  Gururaj, A  Al-Gazali, L  Al-Tawari, AA  Kayserili, H  Sztriha, L  Gleeson, JG 
Citation: Dixon-Salazar T, etal., Am J Hum Genet 2004 Dec;75(6):979-87. Epub 2004 Oct 04.
RGD ID: 1304518
Pubmed: PMID:15467982   (View Abstract at PubMed)
PMCID: PMC1182159   (View Article at PubMed Central)
DOI: DOI:10.1086/425985   (Journal Full-text)

Joubert syndrome (JS) is an autosomal recessive disorder marked by agenesis of the cerebellar vermis, ataxia, hypotonia, oculomotor apraxia, neonatal breathing abnormalities, and mental retardation. Despite the fact that this condition was described >30 years ago, the molecular basis has remained poorly understood. Here, we identify two frameshift mutations and one missense mutation in the AHI1 gene in three consanguineous families with JS, some with cortical polymicrogyria. AHI1, encoding the Jouberin protein, is an alternatively spliced signaling molecule that contains seven Trp-Asp (WD) repeats, an SH3 domain, and numerous SH3-binding sites. The gene is expressed strongly in embryonic hindbrain and forebrain, and our data suggest that AHI1 is required for both cerebellar and cortical development in humans. The recently described mutations in NPHP1, encoding a protein containing an SH3 domain, in a subset of patients with JS plus nephronophthisis, suggest a shared pathway.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Joubert syndrome 3  IAGP 1304518DNA:deletion more ...RGD 
Joubert syndrome 3  ISOAHI1 (Homo sapiens)1304518; 1304518DNA:deletion more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ahi1  (Abelson helper integration site 1)

Genes (Mus musculus)
Ahi1  (Abelson helper integration site 1)

Genes (Homo sapiens)
AHI1  (Abelson helper integration site 1)

Additional Information