Low Phospholipid-Associated Cholelithiasis in a Mother-Son Pair Associated With a Novel ABCB4 Frameshift Variant.

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.