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

doi:10.1002/ana.20749

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Article

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

Annals of neurology - 1 Mar 2006

Valente Enza Maria, Brancati Francesco, Silhavy Jennifer L, Castori Marco, Marsh Sarah E, Barrano Giuseppe, Bertini Enrico, Boltshauser Eugen, Zaki Maha S, Abdel-Aleem Alice, Abdel-Salam Ghada M H, Bellacchio Emanuele, Battini Roberta, Cruse Robert P, Dobyns William B, Krishnamoorthy Kalpathy S, Lagier-Tourenne Clotilde, Magee Alex, Pascual-Castroviejo Ignacio, Salpietro Carmelo D, Sarco Dean, Dallapiccola Bruno, Gleeson Joseph G

Abstract excerpt

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...

Topics

Adaptor Proteins, Signal Transducing
Adaptor Proteins, Vesicular Transport
Adolescent
Adult
Animals
Brain Diseases
Brain Stem
Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Child, Preschool

Chromosome Disorders

DNA Mutational Analysis

Developmental Disabilities

Family Health

Female

Gene Frequency

Humans

Infant

Magnetic Resonance Imaging

Source

Open in PubMed

Identifiers

PMID: 16453322
DOI: 10.1002/ana.20749

Genes

AHI1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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