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Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior–Løken syndrome
  1. Juliana Helou1,
  2. Edgar A Otto1,
  3. Massimo Attanasio1,
  4. Susan J Allen1,
  5. Melissa A Parisi2,
  6. Ian Glass2,
  7. Boris Utsch3,
  8. Seema Hashmi4,
  9. Elisa Fazzi5,
  10. Heymut Omran6,
  11. John F O’Toole1,
  12. John A Sayer1,7,
  13. Friedhelm Hildebrandt1
  1. 1Departments of Pediatrics and of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA
  2. 2Department of Pediatrics, University of Washington, Seattle, Washington, USA
  3. 3Department of Pediatrics, University of Erlangen, Erlangen, Germany
  4. 4Department of Pediatric Nephrology, Sindh Institute of Urology and Transplantation, Karachi, Pakistan
  5. 5Department of Child Neurology and Psychiatry, University of Pavia, IRCCS “C. Mondino” Foundation Italy
  6. 6Department of Pediatrics, University of Freiburg, Freiburg, Germany
  7. 7Department of Human Genetics, School of Clinical Medical Sciences, University of Newcastle upon Tyne NE1 3BZ, UK
  1. Correspondence to:
 Friedhelm Hildebrandt
 MD, University of Michigan Medical School, 8220C MSRB III, 1150 West Medical Center Drive, Ann Arbor, MI 48109-0646, USA; fhilde{at}


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.

  • ESRD, end-stage renal disease
  • JBTS, Joubert syndrome
  • JSRD, Joubert syndrome-related disorders
  • LCA, Leber congenital amaurosis
  • MTS, molartooth sign
  • NPHP, nephronophthisis
  • OMIM, Online Mendelian Inheritance in Man
  • SLSN, Senior–Løken syndrome
  • NPHP6/CEP290
  • Joubert syndrome
  • Senior–Løken syndrome
  • nephronophthisis
  • mutational analysis

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  • Competing interests: None declared.

  • Published Online First 6 July 2007