{
  "abstract": "Cholestasis is caused by genetic disorders in 25% of cases. Our study aimed to describe the clinical and genetic profile of cholestasis and to demonstrate the importance of next‐generation sequencing (NGS) in the etiologic diagnosis of genetic cholestasis. We included patients referred for cholestasis over a 10‐year period. Molecular studies using NGS consisted of a 292‐gene panel and/or whole exome sequencing. Our cohort included 70 patients from 66 unrelated families. A genetic diagnosis was established in 70% of the families. The most common diagnoses were Type 2 progressive familial intrahepatic cholestasis (n = 12), neonatal sclerosing cholangitis (n = 4), low phospholipid‐associated cholelithiasis syndrome (n = 4), and Alagille syndrome (n = 4). The ABCB11 gene was most frequently mutated (15/46), with two recurrent variants, c.1062T>A (p.Tyr354*) and c.1826_1827dup (p.Ile610Glnfs*45), found in six and four families, respectively. Our results showed a 62% diagnostic yield of molecular testing using NGS in cholestasis. An accurate diagnosis was key to providing appropriate genetic counseling, guiding screening of variant carriers, and prenatal diagnosis.",
  "abstract_shown": true,
  "affiliations": [
    "Genetic Department Mongi Slim Hospital Tunis Tunisia",
    "Research Laboratory LR22SP01 Mongi Slim Hospital Tunis Tunisia",
    "Faculty of Medicine of Tunis University of Tunis El Manar Tunisia",
    "Human Genetics Laboratory, LR99ES10 ‐ Faculty of Medicine of Tunis University of Tunis El Manar Tunis Tunisia",
    "Univ. Lille, CNRS, Inserm, CHU Lille Institut Pasteur de Lille, UMR9020 CNRS ‐ U1277 Inserm – CANTHER Lille France",
    "Pediatric Department C Children's Hospital Bechir Hamza Tunis Tunisia",
    "Research Laboratory LR16SP01 “Infertility and Oncofertility” Aziza Othmana Hospital Tunis Tunisia"
  ],
  "article_type": "research article",
  "arxiv": null,
  "author_total": 13,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Amal Abdmouleh",
      "orcid": "0009-0007-2535-5309"
    },
    {
      "affs": [
        0,
        1,
        2
      ],
      "name": "Houweyda Jilani",
      "orcid": "0000-0002-7433-0294"
    },
    {
      "affs": [
        0,
        1
      ],
      "name": "Imen Rejeb",
      "orcid": "0000-0002-2826-1910"
    },
    {
      "affs": [
        0,
        2,
        3
      ],
      "name": "Syrine Hizem"
    },
    {
      "affs": [
        4
      ],
      "name": "Nicolas Pottier",
      "orcid": "0000-0001-8913-6286"
    },
    {
      "affs": [
        4
      ],
      "name": "Romain Larrue"
    },
    {
      "affs": [
        4
      ],
      "name": "Wendy Arondal"
    },
    {
      "affs": [
        4
      ],
      "name": "Lucie Hanquet"
    },
    {
      "affs": [
        2,
        5
      ],
      "name": "Rania Benrabeh",
      "orcid": "0000-0003-2674-6049"
    },
    {
      "affs": [
        2,
        5
      ],
      "name": "Olfa Bouyahia"
    },
    {
      "affs": [
        2,
        5
      ],
      "name": "Sonia Mazigh"
    },
    {
      "affs": [
        0,
        2,
        6
      ],
      "name": "Yasmina Elaribi",
      "orcid": "0000-0003-3031-4783"
    },
    {
      "affs": [
        0,
        1,
        2
      ],
      "name": "Lamia Benjemaa"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/7qgn1g8bb1qcw.bib",
  "cited_by": 0,
  "doi": "10.1111/cge.70242",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13728971/",
  "id": "7qgn1g8bb1qcw",
  "issns": [
    "0009-9163",
    "1399-0004"
  ],
  "landing_url": "https://doi.org/10.1111/cge.70242",
  "language": "en",
  "licence": "CC-BY-NC-ND-4.0",
  "licence_label": "CC BY-NC-ND 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by-nc-nd/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "heading",
      "Original Article"
    ],
    [
      "openalex",
      "2746|Pediatric Hepatobiliary Diseases and Treatments"
    ]
  ],
  "openalex": "W7213357764",
  "pdf_url": "https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/cge.70242",
  "pmcid": "PMC13728971",
  "pmid": "42742065",
  "published": "2026-09-15",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/7qgn1g8bb1qcw.ris",
  "sources": [
    {
      "first_seen": "2026-11-07T12:21:49Z",
      "native_id": "PMC13728971",
      "source": "pmc",
      "url": "https://doi.org/10.1111/cge.70242"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2746|Pediatric Hepatobiliary Diseases and Treatments",
      "subfield": "surgery"
    }
  ],
  "title": "Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next‐Generation Sequencing: Case Series of 70 Patients",
  "title_text": "Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next‐Generation Sequencing: Case Series of 70 Patients",
  "type": "peer-reviewed",
  "updated_at": "2026-11-07T12:21:49Z",
  "url": "https://research.draconitic.com/paper/7qgn1g8bb1qcw",
  "venue": "Clinical Genetics",
  "versions": []
}