This Month in The Journal

Joubert syndrome (JS) is a ciliopathy characterized by hypotonia, ataxia, and a “molar tooth sign” on MRI, and it can also involve cognitive defects. This genetically heterogeneous disorder is caused by mutations in more than three dozen genes that encode proteins required for cilia formation or function. In this issue, Van de Weghe et al. identify ARMC9 mutations in eigh t JS-affected families in whom mutations in previously associated genes had already been ruled. The families were ascertained through different mechanisms, but the combined cohort data suggest that ARMC9 mutations might explain the genetic defect in about 1% of JS-affected individuals.
Source: The American Journal of Human Genetics - Category: Genetics & Stem Cells Authors: Tags: Editors' Corner Source Type: research