Clinical symptoms, biochemistry, and liver histology during the native liver period of progressive familial intrahepatic cholestasis type 2

Table 1 List of patients enrolled in this study

Patient number	Birth year	Gender	Diagnosis							Clinical course
			ABCB11 mutation 1			ABCB11 mutation 2			IHC BSEP signal	Onset (YM)	Surgical intervention		NaPB therapy	Status
			Exon	Nucleotide change	AA change	Exon	Nucleotide change	AA change	IHC BSEP signal	Onset (YM)	Surgery	Age (YM)	NaPB therapy	Outcome	Age (YM)
C01	1998	Female	14	c.1613A > G	p.Y538C	23	c.2842C > T	p.R948C	NA	1Y0M	LDLT	4Y9M	−	Alive	20Y6M
C02	2015	Male	6	c.459_462delinsA	p.I154del	ND			−	0Y4M	LDLT	3Y8M	−	Alive	3Y9M
C03 ^[24]	2007	Male	13	c.1425 T > A	p.C475X	10	c.953_954delAA	p.K318RfsX33	NA	0Y5M	LDLT	1Y11M	−	Dead	5Y3M
C04	2002	Female	22	c.2703C > G	p.S901R	25	c.3248G > A	p.C1083Y	NA	0Y1M	LDLT	1Y5M	−	Alive	16Y10M
C05	2014	Female	15	c.1709C > T	p.A570V	28	c.3802C > T	p.R1268W	−	0Y4M	LDLT	0Y9M	−	Alive	4Y3M
C06	2013	Female	18	c.2150A > G	p.H717R	ND			−	0Y2M	LDLT	0Y9M	−	Alive	5Y5M
C07 ^[29]	2009	Female	5	c.386G > A	p.C129Y	5	c.386G > A	p.C129Y	NA	0Y1M	LDLT	0Y9M	−	Alive	9Y7M
C08	2008	Female	22	c.2703C > G	p.S901R	25	c.3248G > A	p.C1083Y	NA	0Y5M	LDLT	0Y9M	−	Alive	10Y10M
C09	2014	Female	5	c.386G > A	p.C129Y	ND			−	0Y1M	LDLT	0Y8M	−	Alive	4Y7M
C10	2015	Female	10	c.989G > A	p.W330X	ND			−	0Y1M	LDLT	0Y7M	−	Alive	2Y2M
C11	2005	Male	5	c.386G > A	p.C129Y	15	c.1723C > T	p.R575X	NA	0Y2M	LDLT	0Y6M	−	Alive	13Y8M
C12	2010	Male	2	c.22C > T	p.R8X	18	c.2150A > G	p.H717R	−	0Y1M	LDLT	0Y4M	−	Alive	8Y8M
T01 ^[20]	2012	Female	5	c.386G > A	p.C129Y	14	c.1460G > A	p.R487H	−	0Y4M	−	−	+	Alive	6Y1M
T02 ^[20]	2013	Female	5	c.386G > A	p.C129Y	5	c.386G > A	p.C129Y	−	0Y3M	−	−	+	Alive	5Y2M

[20] Nakano S, et al., Sci Rep. 2019 Nov 19;9(1):17075, [24] Masahata K, et al., Transplant Proc. 2016 Nov;48(9):3156−62, [29] Imagawa K, et al., J Hum Genet. 2018 May;63(5):569–77
M month, NA not available, ND not detected, Y year

ISSN: 1750-1172