Article
Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.
American journal of human genetics - 1 Dec 2004
Dixon-Salazar Tracy, Silhavy Jennifer L, Marsh Sarah E, Louie Carrie M, Scott Lesley C, Gururaj Aithala, Al-Gazali Lihadh, Al-Tawari Asma A, Kayserili Hulya, Sztriha László, Gleeson Joseph G
Abstract excerpt
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...
Topics
- Abnormalities, Multiple
- Adaptor Proteins, Signal Transducing
- Adaptor Proteins, Vesicular Transport
- Amino Acid Sequence
- Base Sequence
- Blotting, Northern
- Cerebellum
- Conserved Sequence
- DNA Mutational Analysis