SCIENTIFIC BACKGROUND

CEP290, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TRAF3IP1, WDR19

Scientific Background

Senior-Løken syndrome (SLS) is an autosomal recessive condition in which nephronophthisis is present in combination with retinitis pigmentosa or Leber congenital amaurosis. The prevalence is estimated at about 1:1,000,000. Similar to nephronophthisis, Senior-Løken syndrome is counted among the so-called ciliopathies. This group of diseases shows great gene locus heterogeneity. At present, nine associated genes are known for SLS.

 

References

Kaur et al. 2016, J Clin Diagn Res 10:SD03 / Ronquillo et al. 2012, Vision Res 75:88 / Salomon et al. 2009, Pediatr Nephrol 24:2333

GENES
CEP290, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TRAF3IP1, WDR19
ASSOCIATED TESTS
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