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

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.

Published in Clinical Case Reports. The abstract is shown as published and remains the work of its authors; read the full article at the source.

doi.org/10.1002/ccr3.73591