ArticleExperimental & molecular medicine2016
Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.
Article in Experimental & molecular medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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22 citing papers in PubMed, 37 citations in OpenAlex.
- Auxiliary genetic analysis in a Chinese adolescent NPH family by single nucleotide polymorphism screening.Molecular medicine reports · 2020Trial
- Whole exome sequencing identified a novel compound heterozygous mutation ofFrontiers in pediatrics · 2026Article
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- Prenatal diagnosis and molecular characterization ofFrontiers in genetics · 2025Article
- Novel ocular observations in a child with Joubert syndrome type 6 due to pathogenic variant inAmerican journal of ophthalmology case reports · 2024Article
- Clinical report and genetic analysis of rare premature infant nephronophthisis caused by biallelic TTC21B variants.Molecular genetics & genomic medicine · 2024Review
- A case of Joubert syndrome caused by novel compound heterozygous variants in theThe Journal of international medical research · 2023Article
- Novel variants identified in five Chinese families with Joubert Syndrome: a case report.BMC medical genomics · 2023Article
- Article
- Characterization of two novel knock-in mouse models of syndromic retinal ciliopathy carrying hypomorphicZoological research · 2022Article
- Whole exome sequencing facilitated the diagnosis in four Chinese pediatric cases of Joubert syndrome related disorders.American journal of translational research · 2022Article
- Novel findings from family-based exome sequencing for children with biliary atresia.Scientific reports · 2021Article
- Spectrum of Mutations in Pediatric Non-glomerular Chronic Kidney Disease Stages 2-5.Frontiers in genetics · 2021Article
- Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes.Experimental eye research · 2020Review
- Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report.BMC medical genetics · 2020Article
- [Clinical features and TTC21B genotype of a child with nephronophthisis type 12].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2019Article
- Towards precision nephrology: the opportunities and challenges of genomic medicine.Journal of nephrology · 2018Review
- The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis.Frontiers in pediatrics · 2018Article
- A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity.European journal of human genetics : EJHG · 2017Article
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Authors and funding
18 authors at 11 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Nephronophthisis-related ciliopathy (NPHP-RC) is a common genetic cause of end-stage renal failure during childhood and adolescence and exhibits an autosomal recessive pattern of inheritance. Genetic diagnosis is quite limited owing to genetic heterogeneity in NPHP-RC. We designed a novel approach involving the step-wise screening of Sanger sequencing and targeted exome sequencing for the genetic diagnosis of 55 patients with NPHP-RC. First, five NPHP-RC genes were analyzed by Sanger sequencing in phenotypically classified patients. Known pathogenic mutations were identified in 12 patients (21.8%); homozygous deletions of NPHP1 in 4 juvenile nephronophthisis patients, IQCB1/NPHP5 mutations in 3 Senior-Løken syndrome patients, a CEP290/NPHP6 mutation in 1 Joubert syndrome patient, and TMEM67/MKS3 mutations in 4 Joubert syndrome patients with liver involvement. In the remaining undiagnosed patients, we applied targeted exome sequencing of 34 ciliopathy-related genes to detect known pathogenic mutations in 7 (16.3%) of 43 patients. Another 18 likely damaging heterozygous variants were identified in 13 NPHP-RC genes in 18 patients. In this study, we report a variety of pathogenic and candidate mutations identified in 55 patients with NPHP-RC in Korea using a step-wise application of two genetic tests. These results support the clinical utility of targeted exome sequencing to resolve the issue of allelic and genetic heterogeneity in NPHP-RC.
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