NEPHRONOPHTHISIS (NPHP) core panel

CEP290, GLIS2, INVS, IQCB1, NPHP1, NPHP3, NPHP4

Description

Scientific Background

Nephronophthisis (NPHP) is an autosomal recessive inherited tubulointerstitial kidney disease, which belongs to the so-called ciliopathies. It is caused by a dysfunction of primary cilia. The incidence in Europe is estimated at approximately 1:50,000. The kidneys may be affected in isolation, but extrarenal manifestations such as retinitis pigmentosa (Senior-Løken syndrome), oculomotor apraxia (Cogan syndrome) as well as optic nerve coloboma and cerebellar vermis aplasia (Joubert syndrome) are also observed in 10‑40% of patients. The disease is phenotypically and genetically heterogeneous. So far, pathogenic variants in over 25 genes have been identified in association with NPHP. NPHP is divided into infantile (<4 years), juvenile (about 13 years) and adolescent/adult (about 19 years) forms depending on the average age at which terminal renal failure occurs. The most frequent form is juvenile NPHP, in which a homozygous deletion of the NPHP1 gene can be found in about 30-60% of patients. No genetic cause can be found in about 40-60% of NPHP patients.

 

References

Titieni et König 2018, medgen 30:461 / Luo et Tao 2018, Nephrology (Carlton) 23:904 / König et al. 2017, Clin J Am Soc Nephrol 12:1974 / Chaki et al. 2011, Kidney Int 80:1239 / Hoefele et al. 2007, Der Nephrologe 2:372 / Hildebrandt & Omran 2001, Pediatr Nephrol 16:168 / Hildebrandt et al. 1997, Kidney 51:261

GENES

CEP290, GLIS2, INVS, IQCB1, NPHP1, NPHP3, NPHP4

ASSOCIATED TESTS

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