| Patient Age | TJP2 [NM_004817.3] | ABCC2 [NM_000392.3] | ABCB11 [NM_003742.2] | Phenotype |
|---|---|---|---|---|
| Proband 21 years |
c.[3334C>T](;) [3334C>T] |
c.[3563T>A](;) [4544G>A] |
c.[1331T>C](;) [1331T>C] |
Icterus as newborn. Liver disease since childhood. Liver biopsy shows cirrhosis, non-specific, maybe caused by cholestasis. Candidate for liver transplantation. |
|
Brother 24 years |
c.[3334C>T](;) [3334C>T] |
c.[3563T>A](;) [4544G>A] |
c.[1331T>C](;) [1331T>C] |
Icterus as newborn, normal liver biopsy. Marginally increased liver parameters. |
|
Sister 19 years |
c.[3334C>T](;) [3334C>T] |
c.[3563T>A](;) [4544G>A] |
c.[1331T>C];[=] | Icterus as newborn. Intrahepatic cholestasis of pregnancy (ICP). Liver biopsy not performed yet. |