Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis.

@article{Wolf2007MutationalAO,
  title={Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis.},
  author={M. F. Wolf and Sophie Saunier and John F. O'Toole and Nicola Wanner and Ted P Groshong and Massimo Attanasio and R{\'e}mi Salomon and Thomas Stallmach and John A Sayer and Ruediger Waldherr and Martin A Griebel and Jangsuk Oh and Thomas J. Neuhaus and U Josefiak and Corinne Antignac and Edgar A. Otto and Friedhelm Hildebrandt},
  journal={Kidney international},
  year={2007},
  volume={72 12},
  pages={1520-6}
}
Joubert syndrome (JS) is an autosomal recessive disorder, consisting of mental retardation, cerebellar vermis aplasia, an irregular breathing pattern, and retinal degeneration. Nephronophthisis (NPHP) is found in 17-27% of these patients, which was designated JS type B. Mutations in four separate genes (AHI1, NPHP1, CEP290/NPHP6, and MKS3) are linked to JS. However, missense mutations in a new ciliary gene (RPGRIP1L) were found in type B patients. We analyzed a cohort of 56 patients with JS… CONTINUE READING
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