TY - JOUR T1 - Mutation analysis of <em>NPHP6</em>/<em>CEP290</em> in patients with Joubert syndrome and Senior–Løken syndrome JF - Journal of Medical Genetics JO - J Med Genet SP - 657 LP - 663 DO - 10.1136/jmg.2007.052027 VL - 44 IS - 10 AU - Juliana Helou AU - Edgar A Otto AU - Massimo Attanasio AU - Susan J Allen AU - Melissa A Parisi AU - Ian Glass AU - Boris Utsch AU - Seema Hashmi AU - Elisa Fazzi AU - Heymut Omran AU - John F O’Toole AU - John A Sayer AU - Friedhelm Hildebrandt Y1 - 2007/10/01 UR - http://jmg.bmj.com/content/44/10/657.abstract N2 - Background: Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease that constitutes the most common genetic cause of renal failure in the first three decades of life. Using positional cloning, six genes (NPHP1-6) have been identified as mutated in NPHP. In Joubert syndrome (JBTS), NPHP may be associated with cerebellar vermis aplasia/hypoplasia, retinal degeneration and mental retardation. In Senior–Løken syndrome (SLSN), NPHP is associated with retinal degeneration. Recently, mutations in NPHP6/CEP290 were identified as a new cause of JBTS. Methods: Mutational analysis was performed on a worldwide cohort of 75 families with SLSN, 99 families with JBTS and 21 families with isolated nephronophthisis. Results: Six novel and six known truncating mutations, one known missense mutation and one novel 3 bp pair in-frame deletion were identified in a total of seven families with JBTS, two families with SLSN and one family with isolated NPHP. ER -