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Peer-reviewedCC BYClinical Case Reports

Low Phospholipid‐Associated Cholelithiasis in a Mother–Son Pair Associated With a Novel ABCB4 Frameshift Variant

  • Hui‐Ming Yang1
  • Jun Liu1
  • Zheng Zhang1
  1. 1Department of Hepatology Hunan Provincial People's Hospital and the First Affiliated Hospital of Hunan Normal University Changsha Hunan China
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Abstract

Low phospholipid‐associated cholelithiasis (LPAC) syndrome is a rare inherited disorder caused by ABCB4 mutations with heterogeneous manifestations. We describe two LPAC cases in a mother–son pair, detailing their clinical presentations, diagnostic evaluations, and management. A novel ABCB4 frameshift variant (c.715_716insTT; p.Ser239PhefsTer9) was identified, expanding the genetic spectrum of LPAC syndrome.

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Cite

BibTeXRIS
BibTeX
@article{yang2026phospholipidassociated,
  title = {{Low Phospholipid‐Associated Cholelithiasis in a Mother–Son Pair Associated With a Novel ABCB4 Frameshift Variant}},
  author = {Hui‐Ming Yang and Jun Liu and Zheng Zhang},
  journal = {Clinical Case Reports},
  year = {2026},
  month = oct,
  doi = {10.1002/ccr3.73591},
  url = {https://doi.org/10.1002/ccr3.73591},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Low Phospholipid‐Associated Cholelithiasis in a Mother–Son Pair Associated With a Novel ABCB4 Frameshift Variant
AU  - Hui‐Ming Yang
AU  - Jun Liu
AU  - Zheng Zhang
PY  - 2026
DA  - 2026/10/23
JO  - Clinical Case Reports
DO  - 10.1002/ccr3.73591
UR  - https://doi.org/10.1002/ccr3.73591
AB  - Low phospholipid‐associated cholelithiasis (LPAC) syndrome is a rare inherited disorder caused by ABCB4 mutations with heterogeneous manifestations. We describe two LPAC cases in a mother–son pair, detailing their clinical presentations, diagnostic evaluations, and management. A novel ABCB4 frameshift variant (c.715_716insTT; p.Ser239PhefsTer9) was identified, expanding the genetic spectrum of LPAC syndrome.
SN  - 2050-0904
ER  -