{
  "abstract": "Introduction: Inherited kidney disease (IKD) is the second most common cause of prevalent kidney failure on kidney replacement therapy in Europe. However, it remains underdiagnosed, in part, because of suboptimal genetic test resolution. The genetic diagnosis of autosomal dominant tubulointerstitial kidney disease (ADTKD) caused by MUC1 gene variants (ADTKD- MUC1 ) is technically challenging. Methods: We implemented a customized library for short-read high-throughput sequencing (SR-HTS) with specific bioinformatic approaches to enhance the genetic diagnosis of ADTKD- MUC1 . Specific analysis of the variable number tandem repeat (VNTR)- MUC1 region was performed in 550 patients with suspected IKD lacking an identifiable genetic cause using customized SR-HTS. We used a combination of techniques to confirm the genetic variant detected by SR-HTS. Results: Overall, 28 patients (5% [25/550]) had ADTKD- MUC1 with DupC (almost 90% [25/28] of MUC1 variants) or DupA (10%) MUC1 pathogenic frameshift variants. More than half of these cases required specialized bioinformatics analysis to detect the variants. These variants were validated using Sanger, SNaPshot, or long-read sequencing (LRS) according to the location and mutation type. Conclusion: This study presents an applicable solution of a customized SR-HTS approach for the systematic screening of MUC1 gene variants, with particular emphasis on the detection of frameshift alterations within the VNTR region that generate pathogenic MUC1 neoproteins associated with ADTKD- MUC1 . Integrating this strategy into routine diagnostic workflows increased the overall diagnostic yield while reducing the technical complexity associated with the sequential application of multiple methodologies.",
  "abstract_shown": true,
  "affiliations": [
    "Clinical Area of Nephrology and Immunology, Health in Code, A Coruña, Spain",
    "Genetic Diagnostic Department, Health in Code, A Coruña, Spain",
    "Research and Development Department, Health in Code, Valencia, Spain",
    "Department of Nephrology, Clínica Universitaria de Navarra. Pamplona, Spain",
    "Department of Nephrology, University Hospital La Paz, Madrid, Spain",
    "Clinical Genetics Unit, Complejo Hospitalario Universitario Insular Materno Infantil, Las Palmas de Gran Canaria, Spain",
    "Department of Nephrology, IIS-Fundación Jiménez Díaz University Hospital, Madrid, Spain",
    "Department of Nephrology, IIS-Fundación Jiménez Díaz University Hospital, Madrid, Spain; School of Medicine, Universidad Autónoma de Madrid, Madrid, Spain",
    "Department of Nephrology, University Hospital Marqués de Valdecilla-IDIVAL, Santander, Spain",
    "Department of Nephrology, University Hospital of A Coruña, A Coruña, Spain",
    "Molecular Genetics Laboratory, Fundació Puigvert, Institut de Recerca Sant Pau (IR-Sant Pau), Barcelona, Spain, ERKNet Reference Center, RICORS2040renal",
    "Department of Nephrology, University Hospital Virgen de la Victoria. Málaga, Spain",
    "Department of Nephrology and Kidney Transplant, National Reference Center for Complex Glomerular Diseases (CSUR), Fundació de Recerca Clínic Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer, Hospital Clínic Barcelona, Barcelona University, Barcelona, Spain",
    "Department of Nephrology, University Hospital Infanta Leonor, Madrid, Spain",
    "Department of Nephrology, University Hospital Infanta Leonor, Madrid, Spain; University Autónoma de Madrid, Madrid, Spain, and University Complutense de Madrid, Madrid, Spain"
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 22,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "José María García-Aznar"
    },
    {
      "affs": [
        1
      ],
      "name": "María Lara Besada-Cerecedo"
    },
    {
      "affs": [
        1
      ],
      "name": "Nerea López Aguirre"
    },
    {
      "affs": [
        2
      ],
      "name": "Jorge Pérez Álvarez"
    },
    {
      "affs": [
        2
      ],
      "name": "Mireia Boluda-Navarro"
    },
    {
      "affs": [
        2
      ],
      "name": "Sonia González Alvaredo"
    },
    {
      "affs": [
        2
      ],
      "name": "Iván Lesende"
    },
    {
      "affs": [
        3
      ],
      "name": "Laura Castañeda-Infante"
    },
    {
      "affs": [
        4
      ],
      "name": "Lina León-Machado"
    },
    {
      "affs": [
        5
      ],
      "name": "Alfredo Santana Rodríguez"
    },
    {
      "affs": [
        6
      ],
      "name": "Vanessa Pérez-Gómez"
    },
    {
      "affs": [
        6
      ],
      "name": "Elena Gomá Garces"
    },
    {
      "affs": [
        7
      ],
      "name": "Alberto Ortiz"
    },
    {
      "affs": [
        8
      ],
      "name": "Gema Fernández Fresnedo"
    },
    {
      "affs": [
        9
      ],
      "name": "Mercedes Cao Vilarino"
    },
    {
      "affs": [
        10
      ],
      "name": "Elisabet Ars Criach"
    },
    {
      "affs": [
        11
      ],
      "name": "Jose Carlos Prado de la Sierra"
    },
    {
      "affs": [
        11
      ],
      "name": "Rosa María Escaño Marín"
    },
    {
      "affs": [
        11
      ],
      "name": "Mónica Martín Velázquez"
    },
    {
      "affs": [
        12
      ],
      "name": "Miquel Blasco"
    },
    {
      "affs": [
        13
      ],
      "name": "Fabio L. Procaccini"
    },
    {
      "affs": [
        14
      ],
      "name": "Patricia de Sequera"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/135ys4pznd4g4.bib",
  "cited_by": 0,
  "doi": "10.1016/j.ekir.2026.107095",
  "fulltext_url": "http://www.sciencedirect.com/science/article/pii/S2468024926033279",
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  "issns": [
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  "landing_url": "https://doi.org/10.1016/j.ekir.2026.107095",
  "language": "en",
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Clinical Research"
    ],
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      "lcc",
      "RC870-923"
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  "pdf_url": "https://www.kireports.org/article/S2468-0249(26)03327-9/pdf",
  "pmcid": null,
  "pmid": "42964607",
  "published": "2026-09-25",
  "publisher": "Elsevier",
  "ris": "https://research.draconitic.com/paper/135ys4pznd4g4.ris",
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  "title": "Customized",
  "title_text": "Customized",
  "type": "peer-reviewed",
  "updated_at": "2026-11-03T12:21:10Z",
  "url": "https://research.draconitic.com/paper/135ys4pznd4g4",
  "venue": "Kidney International Reports",
  "versions": []
}