ArticleScientific reports2018
Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations.
Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed.
- Single-Molecule Real-Time Sequencing for MUC1 Variable Number of Tandem Repeat Variation to Improve Autosomal Dominant Tubulointerstitial Kidney Disease Diagnosis.Journal of the American Society of Nephrology : JASN · 2026Article
- Long-Read Sequencing in CKD Diagnostics: Breaking Genomic Barriers and Expanding Global Inclusion.Kidney international reports · 2026Review
- Complex structural variation, phylogeny, and disease associations of the mucin pangenome.medRxiv : the preprint server for health sciences · 2026Article
- Evolutionary Balancing of Genetic Consequence and Innovation in Mammals Through Variable Number Tandem Repeats.Genome biology and evolution · 2026Review
- Analysis of clinically relevant large tandem repeats using nanopore sequencing.Scientific reports · 2025Article
- Long-Read Sequencing of thebioRxiv : the preprint server for biology · 2025Article
- Clinical use of the VNtyper-Kestrel pipeline for MUC1 variant detection in autosomal-dominant tubulointerstitial kidney disease.Clinical and experimental nephrology · 2025Article
- Unleashing the Power of Multiomics: Unraveling the Molecular Landscape of Peripheral Neuropathy.Annals of clinical and translational neurology · 2025Review
- Systematic Screening of Autosomal Dominant Tubulointerstitial Kidney Disease- MUC1 27dupC Pathogenic Variant through Exome Sequencing.Journal of the American Society of Nephrology : JASN · 2025Article
- Article
- Advancing Genetic Testing in Kidney Diseases: Report From a National Kidney Foundation Working Group.American journal of kidney diseases : the official journal of the National Kidney Foundation · 2024Review
- The Role of Genetic Testing in Adult CKD.Journal of the American Society of Nephrology : JASN · 2024Article
- Description of a New Simple and Cost-Effective Molecular Testing That Could SimplifyKidney international reports · 2024Article
- A long-read sequencing strategy with overlapping linkers on adjacent fragments (OLAF-Seq) for targeted resequencing and enrichment.Scientific reports · 2024Article
- Hypoxia controls expression of kidney-pathogenicLife science alliance · 2023Article
- VNtyper enables accurate alignment-free genotyping ofiScience · 2023Article
- Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2023Article
- Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study.European journal of human genetics : EJHG · 2022Article
- Autosomal Dominant Tubulointerstitial Kidney Disease: An Emerging Cause of Genetic CKD.Kidney international reports · 2022Review
- Autosomal dominant tubulointerstitial kidney disease: A review.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
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Authors and funding
18 authors.
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Abstract
Recently, the Mucin-1 (MUC1) gene has been identified as a causal gene of autosomal dominant tubulointerstitial kidney disease (ADTKD). Most causative mutations are buried within a GC-rich 60 basepair variable number of tandem repeat (VNTR), which escapes identification by massive parallel sequencing methods due to the complexity of the VNTR. We established long read single molecule real time sequencing (SMRT) targeted to the MUC1-VNTR as an alternative strategy to the snapshot assay. Our approach allows complete VNTR assembly, thereby enabling the detection of all variants residing within the VNTR and simultaneous determination of VNTR length. We present high resolution data on the VNTR architecture for a cohort of snapshot positive (n = 9) and negative (n = 7) ADTKD families. By SMRT sequencing we could confirm the diagnosis in all previously tested cases, reconstruct both VNTR alleles and determine the exact position of the causative variant in eight of nine families. This study demonstrates that precise positioning of the causative mutation(s) and identification of other coding and noncoding sequence variants in ADTKD-MUC1 is feasible. SMRT sequencing could provide a powerful tool to uncover potential factors encoded within the VNTR that associate with intra- and interfamilial phenotype variability of MUC1 related kidney disease.
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