RGD Reference Report - AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. - Rat Genome Database

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AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.

Authors: Valente, EM  Brancati, F  Silhavy, JL  Castori, M  Marsh, SE  Barrano, G  Bertini, E  Boltshauser, E  Zaki, MS  Abdel-Aleem, A  Abdel-Salam, GM  Bellacchio, E  Battini, R  Cruse, RP  Dobyns, WB  Krishnamoorthy, KS  Lagier-Tourenne, C  Magee, A  Pascual-Castroviejo, I  Salpietro, CD  Sarco, D  Dallapiccola, B  Gleeson, JG   
Citation: Valente EM, etal., Ann Neurol. 2006 Mar;59(3):527-34.
RGD ID: 11537387
Pubmed: PMID:16453322   (View Abstract at PubMed)
DOI: DOI:10.1002/ana.20749   (Journal Full-text)

OBJECTIVE: Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. It is characterized by hypoplasia of the cerebellar vermis and a particular midbrain-hindbrain "molar tooth" sign, a finding shared by a group of Joubert syndrome-related disorders (JSRDs), with wide phenotypic variability. The frequency of mutations in the first positionally cloned gene, AHI1, is unknown. METHODS: We searched for mutations in the AHI1 gene among a cohort of 137 families with JSRD and radiographically proven molar tooth sign. RESULTS: We identified 15 deleterious mutations in 10 families with pure JS or JS plus retinal and/or additional central nervous system abnormalities. Mutations among families with JSRD including kidney or liver involvement were not detected. Transheterozygous mutations were identified in the majority of those without history of consanguinity. Most mutations were truncating or splicing errors, with only one missense mutation in the highly conserved WD40 repeat domain that led to disease of similar severity. INTERPRETATION: AHI1 mutations are a frequent cause of disease in patients with specific forms of JSRD.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Joubert syndrome 3  IAGP 11537387DNA:insertion more ...RGD 
Joubert syndrome 3  ISOAHI1 (Homo sapiens)11537387; 11537387DNA:insertion more ...RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Ataxia  IAGP 11537387DNA:insertion more ...RGD 
Neurodevelopmental delay  IAGP 11537387DNA:insertion 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