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Mutation analysis of NPHP6/CEP290 in patients with Joubert-Syndrome and Senior-Løken-Syndrome
  1. Juliana Helou (jhelou{at}med.umich.edu)
  1. University of Michigan, Department of Pediatrics, United States
    1. Edgar A Otto (eotto{at}med.umich.edu)
    1. University of Michigan, Department of Pediatrics, United States
      1. Massimo Attanasio (massimoa{at}med.umich.edu)
      1. University of Michigan, Department of Pediatrics, United States
        1. Susan J Allen (sjallen{at}med.umich.edu)
        1. Department of Pediatrics, University of Michigan, United States
          1. Melissa Parisi (mparisi{at}u.washington.edu)
          1. 2Department of Pediatrics, University of Washington, United States
            1. Ian Glass (ian.glass{at}seattlechildrens.org)
            1. 2Department of Pediatrics, University of Washington, Seattle, WA, USA, United States
              1. Boris Utsch (borisutsch{at}yahoo.de)
              1. Department of Pediatrics, University of Erlangen, Germany
                1. Seema Hashmi (seemahashmi{at}cyber.net.pk)
                1. Department of Pediatric Nephrology,, Pakistan
                  1. Elisa Fazzi
                  1. Department of Child Neurology and Psychiatry, University of Pavia, I.R.C.C.S., Italy
                    1. Heymut Omran (omran{at}kikli.ukl.uni-freiburg.de)
                    1. Department of Pediatrics and Adolescent Medicine, University Medical Center Freiburg, Germany
                      1. John O' Toole (jotoole{at}med.umich.edu)
                      1. Department of Pediatrics, University of Michigan, United States
                        1. John Sayer (j.a.sayer{at}newcastle.ac.uk)
                        1. Department of Human Genetics, School of Clinical Medical Sciences, University of, United Kingdom
                          1. Friedhelm Hildebrandt (fhilde{at}med.umich.edu)
                          1. Departments of Pediatrics and of Human Genetics, University of Michigan, United States

                            Abstract

                            ABSTRACT Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease, which constitutes the most frequent genetic cause of renal failure in the first three decades of life. By positional cloning, 6 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, we identified mutations in NPHP6/CEP290 as a new cause of JBTS. Here we performed mutational analysis in a worldwide cohort of 75 families with SLSN, 99 families with JBTS, and 21 families with isolated nephronophthisis. We identified 6 novel and 6 known truncating mutations, 1 known missense mutation and 1 novel 3 base pair in-frame deletion in a total of 7 families with JBTS, 2 families with SLSN, and 1 family with isolated NPHP.

                            • Joubert syndrome
                            • NPHP6/CEP290
                            • Senior-Løken syndrome
                            • mutational analysis
                            • nephronophthisis

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