Zebrafish are a valuable vertebrate model in which to study development and characterize genes involved in cystic kidney disease. Zebrafish embryos and larvae are transparent, allowing non-invasive imaging during their rapid development, which takes place over the first 72 hours post fertilisation. Gene-specific knockdown of nephronophthisis-associated genes leads to ciliary phenotypes which can be assessed in various developmental structures. Here we describe in detail the methods used for imaging cilia within Kupffer's vesicle to assess nephronophthisis and related ciliopathy phenotypes.
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http://dx.doi.org/10.12688/f1000research.15511.2 | DOI Listing |
Kidney Int Rep
January 2025
Department of General Pediatrics, University Children's Hospital Münster, Münster, Germany.
Introduction: Phenotypic heterogeneity and unpredictability of individual disease progression present enormous challenges in ultrarare renal ciliopathies. The tubular-derived glycoprotein, Dickkopf-related protein 3 (DKK3) is a promising biomarker for kidney fibrosis and prediction of kidney function decline. Here, we measured urinary DKK3 (uDKK3) levels in 195 pediatric patients with renal ciliopathy to assess its potential as a discriminative and prediction marker.
View Article and Find Full Text PDFClin Genet
December 2024
Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, Istanbul, Turkey.
Renal ciliopathies are a genetically and phenotypically heterogeneous group of diseases characterized by cystic and dysplastic kidneys. The aim of this study was to investigate the correlation between genetic changes that cause renal ciliopathies and phenotypic outcomes. The study group consisted of 137 patients diagnosed with renal ciliopathy disease.
View Article and Find Full Text PDFHum Mol Genet
December 2024
Department of Human Genetics, McGill University, 3640 rue University, Montreal, QC, H3A 0C7, Canada.
Background: Primary ciliopathies are a heterogeneous group of rare disorders predominantly caused by autosomal-recessive genetic variants that disrupt non-motile ciliary function. They often manifest as a syndromic phenotype, frequently involving the kidney. Biallelic pathogenic variants in C2CD3 disrupt ciliogenesis and Sonic Hedgehog (SHH) signaling, resulting in a severe ciliopathy (Orofaciodigital syndrome XIV, OMIM 615948).
View Article and Find Full Text PDFDoc Ophthalmol
December 2024
Ophthalmology department, Miguel Servet University Hospital, Paseo Isabel La Católica, 1-3 50009, Zaragoza, Spain.
Introduction: Nephronophthisis 12 is a rare condition and only two cases have been reported to associate with retinopathy. Herein we present the third case in scientific literature, and the first with vision-quality exams.
Clinical Case: The case was a 28-year-old male with the mutations c.
Genes (Basel)
October 2024
Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud University, Riyadh 11433, Saudi Arabia.
Background: Nephronophthisis (NPHP) is an autosomal recessive genetic disorder that can cause early-onset kidney failure. plays an important role in early kidney development and encodes a protein that interacts with other proteins within the primary cilium. mutations are known to cause nephronophthisis 16 (NPHP-16).
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