KIAA0586 is Mutated in Joubert Syndrome.

  title={KIAA0586 is Mutated in Joubert Syndrome.},
  author={Ruxandra Bachmann-Gagescu and Ian G. Phelps and Jennifer C Dempsey and Vivek A Sharma and Gisele E. Ishak and Evan A. Boyle and Meredith J. C. Wilson and Charles Marques Lourenço and Mutluay Arslan and Jay Shendure and Daniel A Doherty},
  journal={Human mutation},
  volume={36 9},
Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by a distinctive mid-hindbrain malformation. JS is part of a group of disorders called ciliopathies based on their overlapping phenotypes and common underlying pathophysiology linked to primary cilium dysfunction. Biallelic mutations in one of 28 genes, all encoding proteins localizing to the primary cilium or basal body, can cause JS. Despite this large number of genes, the genetic cause can currently be determined… CONTINUE READING