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
- Senior-Løken syndrome
- mutational analysis
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