A recurrent ABCC2 p.G693R mutation resulting in loss of function of MRP2 and hyperbilirubinemia in Dubin-Johnson syndrome in China

Table 1 Clinical characteristics and non-synonymous variants identified in DJS patients with ABCC2 p.G693R mutation

Patient Number	Age (year)	Sex	Variants	TB (μmol/L)	DB (μmol/L)	ALT (U/L)	AST (U/L)	ALP (U/L)	GGT (U/L)	TBA (μmol/L)	ALB (g/L)	PTA (%)	Abdominal ultrasonography	Liver stiffness (Kpa)
1	21	Female	p.G693R (c.2190G > A), p.R529Q (c.1586G > A)	94	54	48	28	79	32	2.9	45	98	Normal	3.5
2	39	Male	p.G693R (c.2190G > A), p.G808V (c.2536G > T)	97	49	43	17	78	23	2.8	46	109	Hepatic hemangioma,cholecystolithiasis	NA

DJS Dubin-Johnson syndrome, TB total bilirubin, DB direct bilirubin, ALT alanine aminotransferase, AST aspartate aminotransferase, ALP alkaline phosphatase, GGT γ-glutamyl transpeptidase, TBA total bile acid, ALB albumin, PTA prothrombin activity, NA not available

ISSN: 1750-1172