Table 2.
Genetic variations discovered in the family using the gene panel approach
| Patient ID | Age (yr) | Gender | TJP2 variation | TJP2 genotype | Other gene variations | Phenotype |
| P2.1 | 36 | M | TJP2 [NM_004817.3]:c.[3334C>T];[3334C>T] | Homozygous | ABCB11[NM_003742.2]:c.[1331T>C];[=] | PFIC4 with cirrhosis, portal hypertension and acute-on-chronic liver failure; Liver transplantation |
| ABCC2[NM_000392.3]:c.[3563T>A];[4544G>A]1 | ||||||
| ABCG5[NM_022436.2]:c.[148C>T];[=] | ||||||
| UGT1A1[NM_000463.2]C.-53TA[6];[7] | ||||||
| P2.5 | 23 | M | TJP2 [NM_004817.3]:c.[3334C>T];[3334C>T] | Homozygous | ABCB11[NM_003742.2]:c.[1331T>C];[1331T>C]2 | PFIC4 with cirrhosis, portal hypertension. Primary liver cancer; Liver transplantation |
| ABCC2[NM_000392.3]:c.[3563T>A];[4544G>A]1 | ||||||
| ABCG5[NM_022436.2]:c.[148C>T];[=] | ||||||
| P2.4 | 25 | M | TJP2 [NM_004817.3]:c.[3334C>T];[3334C>T] | Homozygous | ABCB11[NM_003742.2]:c.[1331T>C];[1331T>C]2 | Elevated liver enzymes |
| ABCC2[NM_000392.3]:c.[3563T>A];[4544G>A]1 | ||||||
| ABCG5[NM_022436.2]:c.[148C>T];[=] | ||||||
| P2.6 | 21 | F | TJP2 [NM_004817.3]:c.[3334C>T];[3334C>T] | Homozygous | ABCB11[NM_003742.2]:c.[1331T>C];[=] | Elevated liver enzymes; Severe cholestasis in pregnancy |
| ABCC2[NM_000392.3]:c.[3563T>A];[4544G>A]1 | ||||||
| ABCG5[NM_022436.2]:c.[148C>T];[=] | ||||||
| UGT1A1[NM_000463.2]C.-53TA[6];[7] | ||||||
| P2.7 | 19 | M | TJP2 [NM_004817.3]:c.[3334C>T];[3334C>T] | Homozyg-ous | ABCB11[NM_003742.2]:c.[1331T>C];[=] | Elevated liver enzymes |
| ABCC2[NM_000392.3]:c.[3563T>A];[4544G>A]1 | ||||||
| ABCG5[NM_022436.2]:c.[148C>T];[=] | ||||||
| UGT1A1[NM_000463.2]C.-53TA[6];[7] | ||||||
| P1.1 | 60 | M | TJP2 [NM_004817.3]:c.[3334C>T];[3334=] | Heterozygous | ABCB11[NM_003742.2]:c.[1331T>C];[1331T=] | Normal |
| ABCC2[NM_000392.3]:c.[3563T>A];[4544G>A]1 | ||||||
| UGT1A1[NM_000643.2]C.-53TA[6];[7] | ||||||
| P1.2 | 55 | F | TJP2 [NM_004817.3]:c.[3334C>T];[3334=] | Heterozygous | ABCB11[NM_003742.2]:c.[1331T>C];[=] | Normal |
| ABCG5[NM_022436.2]:c.[148C>T];[=] | ||||||
| P2.2 | 32 | F | TJP2 [NM_004817.3]:c.[3334C>T];[3334=] | Heterozygous | ABCB11[NM_003742.2]:c.[1331T>C];[=] | Mild cholestasis in pregnancy |
| ABCG5[NM_022436.2]:c.[148C>T];[=] | ||||||
| P2.8 | 16 | M | TJP2 [NM_004817.3]:c.[3334C>T];[=] | Heterozygous | ABCB11[NM_003742.2]:c.[1331T>C];[1331T=]1 | Normal |
| ABCG5[NM_022436.2]:c.[148C>T];[=] | ||||||
| UGT1A1[NM_000463.2]C.-53TA[6];[7] | ||||||
| P2.3 | 31 | M | TJP2 [NM_004817.3]:c.[3334=];[3334=] | Wild type | ABCG5[NM_022436.2]:c.[148C>T];[=] | Normal |
| P2.9 | 15 | M | TJP2 [NM_004817.3]:c.[3334=];[3334=] | Wild type | ABCB11[NM_003742.2]:c.[1331T>C];[1331T>C]2 | Normal |
| ABCC2[NM_000392.3]:c.[3563T>A];[4544G>A]1 | ||||||
| P2.10 | - | F | - | - | Mild cholestasis, 4 pregnancies? | |
| P2.11 | - | F | - | - | Mild cholestasis, 3 pregnancies? | |
| P2.12 | - | F | - | - | Mild cholestasis, 2 pregnancies? |
1
Compound heterozygosity for the ABCC2 gene variant coding for multidrug resistance protein 2 (MRP2) may be associated with pruritus in patients with primary biliary cholangitis.
2
Homozygosity for ABCB11 gene variant coding for bile salt export pump (BSEP) protein is associated with cholestasis in pregnancy and drug-induced cholestasis. M: Male; F: Female.