Case Report
Copyright ©The Author(s) 2020.
World J Gastroenterol. Feb 7, 2020; 26(5): 550-561
Published online Feb 7, 2020. doi: 10.3748/wjg.v26.i5.550
Table 3 Literature review of findings of genetically verified tight junction protein 2 variants
Ref.TJP2 geneAgeLiver enzymesBile acidsFibrosisPruritusICPHCCLiver failureTJP2 mutationTJP2/Included
Vitale et al[2]Heterozyg-ous37-51 yrElevatedElevatedNormal FibroScan1 with obvious symptoms1 with DIC and ICPNKNKp.[T62M]; [=]p.[I875T]; [=]10/48
Sambrotta et al[6]12 children Homozyg-ous1-3 moLow or normalElevatedCirrhosis and portal hypertension age 4 and 7NoNoNot described9 liver transplantationsc.766_769delGCCT, c.885delC12/12
1.5-4 years agec.782delA, c.1361delC, c.1992-2A>G, c.953-735_2356-249del
1 died 13 monthsc.3408-?_3573+?del and c.1894C>T
Wang et al[10]21-68 yrNKNKNKNKNKNKNKc.2081G>A(p.G694E)8/21 Hearing loss
Dixon et al[11]Heterozyg-ousNKElevatedElevatedNKYesAll confirmed ICPNKNKp.Thr62Met; p.Thr626Ser3/26
1 stillbirthc.1877C > G. p.Thr626Aer
Ge et al[14]Compound heterozyg-ous23 moElevatedElevatedNKAlleviated after treatment-NKNKc.2448 + 1G > C1/1
c.2639delC (p.T880Sfs*12)
Zhou et al[15]Compound heterozyg-ous26 moElevatedNKBoth with cirrhosisNKNoYesYes2668-1G>T /c.2438dupT (p.Asn814Glnfs2/2
Homozyg-ous6 moElevatedYes, age 2 yearsNKc.817delG (p.A273fs
Vij et al[16]Homozyg-ous7 yrNormalElevatedCirrhotic explant liver and high-grade dysplastic noduleYesNoYes, early well- differentiatedNoc.(2659+1_2660-1)/(2760+1_2761-1)1/1
Shagrani et al[17]Heterozyg-ous0-12 yrElevatedNormal1 with congenital hepatic fibrosisNoNoNoNKc.2038delA:p.R680fs12/37
Homozyg-ousBut 4 patients required liver transplantationc.1012C>T:p.R338X
Chen et al[18]Heterozyg-ous> 1 yrNKElevated but no detailed dataNKNoNoNoNKc.2174G>A,4/33
Carlton et al[19]Homozyg-ous1-8 yrAlmost normalAlmost normal or NKNKYesNKNKNK143C/143C11 individuals with familial hypercholanemia in 8 families