ArticleClinical and experimental nephrology2017
Comprehensive genetic testing approach for major inherited kidney diseases, using next-generation sequencing with a custom panel.
Article in Clinical and experimental nephrology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.
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46 citing papers in PubMed, 68 citations in OpenAlex.
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- A parent and child with Liddle syndrome diagnosed correctly with the child as the proband: a case report with review of literature.Endocrine journal · 2025Review
- Gitelman syndrome and in vitro fertilization-embryo transfer: advancing preconception care in nephrology.CEN case reports · 2024Article
- Protocol for the nationwide registry of patients with polycystic kidney disease: japanese national registry of PKD (JRP).Clinical and experimental nephrology · 2024Article
- Importance ofKidney international reports · 2024Article
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- Genetic Diagnosis of Adult Hemodialysis Patients With Unknown Etiology.Kidney international reports · 2024Article
- A case of unexpected diagnosis of fibronectin glomerulopathy with histological features of membranoproliferative glomerulonephritis.BMC nephrology · 2024Article
- Case of hereditary kidney disease presenting thin basement membrane with a single heterozygous variant of Intersectin 2.Journal of rural medicine : JRM · 2023Article
- A novel SLC5A2 heterozygous variant in a family with familial renal glucosuria.Human genome variation · 2022Article
- Gitelman syndrome with a novel frameshift variant in SLC12A3 gene accompanied by chronic kidney disease and type 2 diabetes mellitus.CEN case reports · 2022Article
- Echocardiographic Findings and Genotypes in Autosomal Dominant Polycystic Kidney Disease.Kidney diseases (Basel, Switzerland) · 2022Article
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGene identification of hereditary kidney diseases by DNA sequencing is important for precise diagnosis, treatment, and genetic consultations. However, the conventional Sanger sequencing is now practically powerless in the face of ever increasing numbers of reported causative genes of various hereditary diseases. The advent of next-generation sequencing technology has enabled large-scale, genome-wide, simultaneous sequence analyses of multiple candidate genes.
methodsWe designed and verified a comprehensive diagnosis panel for approximately 100 major inherited kidney diseases, including 127 known genes. The panel was named Simple, sPEedy and Efficient Diagnosis of Inherited KIdney Diseases (SPEEDI-KID). We applied the panel to 73 individuals, clinically diagnosed with an inherited kidney disease, from 56 families.
resultsThe panel efficiently covered the candidate genes and allowed a prompt and accurate genetic diagnosis. Moreover, 18 unreported mutations suspected as the disease causes were detected. All these mutations were validated by Sanger sequencing, with 100 % concordance.
conclusionIn conclusion, we developed a powerful diagnostic method, focusing on inherited kidney diseases, using a custom panel, SPEEDI-KID, allowing a fast, easy, and comprehensive diagnosis regardless of the disease type.
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