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Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Loken syndrome.

Authors: 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 
Citation: Helou J, etal., J Med Genet. 2007 Oct;44(10):657-63. Epub 2007 Jul 6.
Pubmed: (View Article at PubMed) PMID:17617513
DOI: Full-text: DOI:10.1136/jmg.2007.052027

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-Loken 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.


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RGD Object Information
RGD ID: 11537352
Created: 2016-09-30
Species: All species
Last Modified: 2016-09-30
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.