Senior-Loken syndrome

Definition:

Senior-Loken syndrome is a rare disorder that combines nephronophthisis and retinitis pigmentosa.

References:

[1]. Albane A Bizet, et al. Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization. Nat Commun. 2015 Oct 21;6:8666. [Content Brief]

[2]. Carsten Bergmann, et al. Educational paper: ciliopathies. Eur J Pediatr. 2012 Sep;171(9):1285-300. [Content Brief]

[3]. Edgar A Otto, et al. Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet. 2010 Oct;42(10):840-50. [Content Brief]

[4]. Edgar A Otto, et al. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat Genet. 2005 Mar;37(3):282-8. [Content Brief]

[5]. G Caridi, et al. Renal-retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus. Am J Kidney Dis. 1998 Dec;32(6):1059-62. [Content Brief]

[6]. Juliana Helou, et al. Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome. J Med Genet. 2007 Oct;44(10):657-63. [Content Brief]

[7]. Maria J Schuermann, et al. Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36. Am J Hum Genet. 2002 May;70(5):1240-6. [Content Brief]

[8]. N A Adams, et al. The retinal ciliopathies. Ophthalmic Genet. 2007 Sep;28(3):113-25. [Content Brief]

[9]. R G Coussa, et al. WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome. Clin Genet. 2013 Aug;84(2):150-9. [Content Brief]

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