Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney

Pediatric Nephrology : Journal of the International Pediatric Nephrology Association
Jiwon M LeeHae Il Cheong

Abstract

Nephronophthisis 13 (NPHP 13) is associated with mutations in the WDR19 gene, which encodes for a protein in the intraflagellar transport complex. Herein, we describe six additional cases accompanied by Caroli syndrome or disease. Targeted exome sequencing covering 96 ciliopathy-related genes was performed for 48 unrelated Korean patients with a clinical suspicion of NPHP. Mutations were confirmed by Sanger sequencing. We evaluated the expression of WDR19 in the biopsied kidney by immunohistochemistry in patients and controls. We detected three (3/48, 6.3 %) unrelated index cases with WDR19 mutations. One of the cases involved two siblings with the same mutation. Later, we detected an additional index case with a similar phenotype of kidney and liver involvement by Sanger sequencing of WDR19. The p.R1178Q mutation was common in all patients. All of the six affected patients from four families progressed to chronic kidney disease. Of note, all six patients had Caroli syndrome or disease. Immunohistochemistry for WDR19 showed localized expression along the luminal borders of the renal tubular epithelium in controls, whereas it showed diffuse cytoplasmic staining in the affected patients. Caroli disease is a major extra-renal phen...Continue Reading

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Aug 12, 2015·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Eujin ParkHae Ii Cheong
Jul 25, 2017·Nature Reviews. Nephrology·Erum A Hartung, Lisa M Guay-Woodford
Jun 18, 2017·Nephrology·Takahisa YoshikawaKenji Ishikura

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