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Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome ana Senior-Løken syndrome

Lookup NU author(s): Professor John Sayer



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 menial 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.

Publication metadata

Author(s): Helou J, Otto EA, Attanasio M, Allen SJ, Parisi MA, Glass I, Utsch B, Hashmi S, Fazzi E, Omran H, O'Toole JF, Sayer JA, Hildebrandt F

Publication type: Article

Publication status: Published

Journal: Journal of Medical Genetics

Year: 2007

Volume: 44

Issue: 10

Pages: 657-663

Print publication date: 01/10/2007

Date deposited: 24/05/2010

ISSN (print): 0022-2593

ISSN (electronic): 1468-6244

Publisher: BMJ Group


DOI: 10.1136/jmg.2007.052027

PubMed id: 17617513


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