. 2020 Feb 7;26(5):550–561. doi: 10.3748/wjg.v26.i5.550

Table 3.

Literature review of findings of genetically verified tight junction protein 2 variants

Ref.	TJP2 gene	Age	Liver enzymes	Bile acids	Fibrosis	Pruritus	ICP	HCC	Liver failure	TJP2 mutation	TJP2/Included
Vitale et al[2]	Heterozygous	37-51 yr	Elevated	Elevated	Normal FibroScan	1 with obvious symptoms	1 with DIC and ICP	NK	NK	p.[T62M]; [=]p.[I875T]; [=]	10/48
Sambrotta et al[6]	12 children Homozyg-ous	1-3 mo	Low or normal	Elevated	Cirrhosis and portal hypertension age 4 and 7	No	No	Not described	9 liver transplantations	c.766_769delGCCT, c.885delC	12/12
									1.5-4 years age	c.782delA, c.1361delC, c.1992-2A>G, c.953-735_2356-249del
									1 died 13 months	c.3408-?_3573+?del and c.1894C>T
Wang et al[10]		21-68 yr	NK	NK	NK	NK	NK	NK	NK	c.2081G>A(p.G694E)	8/21 Hearing loss
Dixon et al[11]	Heterozygous	NK	Elevated	Elevated	NK	Yes	All confirmed ICP	NK	NK	p.Thr62Met; p.Thr626Ser	3/26
Dixon et al[11]	Heterozygous	NK	Elevated	Elevated	NK	Yes	1 stillbirth	NK	NK	c.1877C > G. p.Thr626Aer	3/26
Ge et al[14]	Compound Heterozygous	23 mo	Elevated	Elevated	NK	Alleviated after treatment	-	NK	NK	c.2448 + 1G > C	1/1
Ge et al[14]	Compound Heterozygous	23 mo	Elevated	Elevated	NK	Alleviated after treatment	-	NK	NK	c.2639delC (p.T880Sfs*12)	1/1
Zhou et al[15]	Compound Heterozygous	26 mo	Elevated	NK	Both with cirrhosis	NK	No	Yes	Yes	2668-1G>T /c.2438dupT (p.Asn814Glnfs	2/2
Zhou et al[15]	Homozyg-ous	6 mo	Elevated	NK	Both with cirrhosis	NK	No	Yes, age 2 years	NK	c.817delG (p.A273fs	2/2
Vij et al[16]	Homozyg-ous	7 yr	Normal	Elevated	Cirrhotic explant liver and high-grade dysplastic nodule	Yes	No	Yes, early well- differentiated	No	c.(2659+1_2660-1)/(2760+1_2761-1)	1/1
Shagrani et al[17]	Heterozygous	0-12 yr	Elevated	Normal	1 with congenital hepatic fibrosis	No	No	No	NK	c.2038delA:p.R680fs	12/37
	Homozyg-ous								But 4 patients required liver transplantation	c.1012C>T:p.R338X
										c.1012C>T:p.R338X
										c.1013delG:p.R338fs
										c.1190C>T:p.P397L
										c.1373delC:p.A458fs
										c.1373delC:p.A458fs
Chen et al[18]	Heterozygous	> 1 yr	NK	Elevated but no detailed data	NK	No	No	No	NK	c.2174G>A,	4/33
										c.343A>G/c.1377T>G
										c.343A>G/c.1377T>G
										c.925C>T
Carlton et al[19]	Homozyg-ous	1-8 yr	Almost normal	Almost normal or NK	NK	Yes	NK	NK	NK	143C/143C	11 individuals with familial hypercholanemia in 8 families