Joubert Syndrome (JS) is a rare autosomal recessive or X-linked condition characterized by a peculiar cerebellar malformation, known as the molar tooth sign (MTS), associated with other neurological phenotypes and multiorgan involvement. JS is a ciliopathy, a spectrum of disorders whose causative genes encode proteins involved in the primary cilium apparatus. In order to elucidate ciliopathy-associated molecular mechanisms, human induced pluripotent stem cells (hiPSCs) were derived from a patient affected by JS carrying a homozygous missense mutation in the AHI1 gene (p.H896R) that encodes a protein named Jouberin.
- Abnormalities, Multiple/genetics
- Adaptor Proteins, Signal Transducing/genetics
- Cells, Cultured
- Eye Abnormalities/genetics
- Induced Pluripotent Stem Cells/metabolism
- Kidney Diseases, Cystic/genetics
- Mutation, Missense/genetics