New tight junction protein 2 variant causing progressive familial intrahepatic cholestasis type 4 in adults: A case report

doi:10.3748/wjg.v26.i5.550

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World Journal of Gastroenterology

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1007-9327

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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World J Gastroenterol. Feb 7, 2020; 26(5): 550-561
Published online Feb 7, 2020. doi: 10.3748/wjg.v26.i5.550

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=]	Heterozyg-ous	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=]	Heterozyg-ous	ABCB11[NM_003742.2]:c.[1331T>C];[=]	Normal
P1.2	55	F	TJP2 [NM_004817.3]:c.[3334C>T];[3334=]	Heterozyg-ous	ABCG5[NM_022436.2]:c.[148C>T];[=]	Normal
P2.2	32	F	TJP2 [NM_004817.3]:c.[3334C>T];[3334=]	Heterozygous	ABCB11[NM_003742.2]:c.[1331T>C];[=]	Mild cholestasis in pregnancy
P2.2	32	F	TJP2 [NM_004817.3]:c.[3334C>T];[3334=]	Heterozygous	ABCG5[NM_022436.2]:c.[148C>T];[=]	Mild cholestasis in pregnancy
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
P2.9	15	M	TJP2 [NM_004817.3]:c.[3334=];[3334=]	Wild type	ABCC2[NM_000392.3]:c.[3563T>A];[4544G>A]¹	Normal
P2.10	-	F	-		-	Mild cholestasis, 4 pregnancies?
P2.11	-	F	-		-	Mild cholestasis, 3 pregnancies?
P2.12	-	F	-		-	Mild cholestasis, 2 pregnancies?

¹Compound heterozygosity for the ABCC2 gene variant coding for multidrug resistance protein 2 (MRP2) may be associated with pruritus in patients with primary biliary cholangitis.

²Homozygosity 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.

Citation: Wei CS, Becher N, Blechingberg J, Ott P, Vogel I, Grønbæk H. New tight junction protein 2 variant causing progressive familial intrahepatic cholestasis type 4 in adults: A case report. World J Gastroenterol 2020; 26(5): 550-561
URL: https://www.wjgnet.com/1007-9327/full/v26/i5/550.htm
DOI: https://dx.doi.org/10.3748/wjg.v26.i5.550