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Peer-reviewedCC BY-NC-ND 4.0Clinical Genetics

Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next‐Generation Sequencing: Case Series of 70 Patients

  • Amal Abdmouleh1
  • Houweyda Jilani1,2,3
  • Imen Rejeb1,2
  • Syrine Hizem1,3,4
  • Nicolas Pottier5
  • Romain Larrue5
  • Wendy Arondal5
  • Lucie Hanquet5
  • Rania Benrabeh3,6
  • Olfa Bouyahia3,6
  • Sonia Mazigh3,6
  • Yasmina Elaribi1,3,7
1 more authors
  • Lamia Benjemaa1,2,3
7 affiliations
  1. 1Genetic Department Mongi Slim Hospital Tunis Tunisia
  2. 2Research Laboratory LR22SP01 Mongi Slim Hospital Tunis Tunisia
  3. 3Faculty of Medicine of Tunis University of Tunis El Manar Tunisia
  4. 4Human Genetics Laboratory, LR99ES10 ‐ Faculty of Medicine of Tunis University of Tunis El Manar Tunis Tunisia
  5. 5Univ. Lille, CNRS, Inserm, CHU Lille Institut Pasteur de Lille, UMR9020 CNRS ‐ U1277 Inserm – CANTHER Lille France
  6. 6Pediatric Department C Children's Hospital Bechir Hamza Tunis Tunisia
  7. 7Research Laboratory LR16SP01 “Infertility and Oncofertility” Aziza Othmana Hospital Tunis Tunisia
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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.

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Cite

BibTeXRIS
BibTeX
@article{abdmouleh2026genetic,
  title = {{Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next‐Generation Sequencing: Case Series of 70 Patients}},
  author = {Amal Abdmouleh and Houweyda Jilani and Imen Rejeb and Syrine Hizem and Nicolas Pottier and Romain Larrue and Wendy Arondal and Lucie Hanquet and Rania Benrabeh and Olfa Bouyahia and Sonia Mazigh and Yasmina Elaribi and Lamia Benjemaa},
  journal = {Clinical Genetics},
  year = {2026},
  month = sep,
  doi = {10.1111/cge.70242},
  url = {https://doi.org/10.1111/cge.70242},
  note = {CC BY-NC-ND 4.0},
}
RIS
TY  - JOUR
TI  - Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next‐Generation Sequencing: Case Series of 70 Patients
AU  - Amal Abdmouleh
AU  - Houweyda Jilani
AU  - Imen Rejeb
AU  - Syrine Hizem
AU  - Nicolas Pottier
AU  - Romain Larrue
AU  - Wendy Arondal
AU  - Lucie Hanquet
AU  - Rania Benrabeh
AU  - Olfa Bouyahia
AU  - Sonia Mazigh
AU  - Yasmina Elaribi
AU  - Lamia Benjemaa
PY  - 2026
DA  - 2026/09/15
JO  - Clinical Genetics
DO  - 10.1111/cge.70242
UR  - https://doi.org/10.1111/cge.70242
AB  - 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.
SN  - 0009-9163
SN  - 1399-0004
ER  -