TY - JOUR
T1 - Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome ana Senior-Løken syndrome
AU - Helou, Juliana
AU - Otto, Edgar A.
AU - Attanasio, Massimo
AU - Allen, Susan J.
AU - Parisi, Melissa A.
AU - Glass, Ian
AU - Utsch, Boris
AU - Hashmi, Seema
AU - Fazzi, Elisa
AU - Omran, Heymut
AU - O'Toole, John F.
AU - Sayer, John A.
AU - Hildebrandt, Friedhelm
PY - 2007/10
Y1 - 2007/10
N2 - 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.
AB - 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.
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U2 - 10.1136/jmg.2007.052027
DO - 10.1136/jmg.2007.052027
M3 - Article
C2 - 17617513
AN - SCOPUS:35348816684
SN - 0022-2593
VL - 44
SP - 657
EP - 663
JO - Journal of medical genetics
JF - Journal of medical genetics
IS - 10
ER -