Genetic complexity in Joubert syndrome and related disorders.
The recent identification of RPGRIP1L as a Joubert syndrome gene brings the total of known genes to five. Three of these are also associated with the lethal Meckel syndrome, and two with Senior-Løken syndrome; both of these disorders share Joubert syndrome phenotypes, illustrating the genetic complexity of this.
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Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, MN 55905, USA. Harris.peter@mayo.edu
D002526:Cerebellar Diseases / Q000235:genetics*; D003598:Cytoskeletal Proteins; D005128:Eye Diseases / Q000235:genetics*; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D013577:Syndrome
D003598:Cytoskeletal Proteins; D011506:Proteins; C415903:RPGRIP1 protein, human