Table 1.

Summary of the liver cirrhosis patients with KIF12 genetic mutations.

	Patient 1	Patient 2	Patient 3
Sex	Male	Female	Male
Mutation (GRCh38, p13)	Chr9:114,095,215 A > G	Chr9:114,095,040 G > A	Chr9:114,094,351 A > T
Mutation (GRCh37, p13)	Chr9:116,857,495 A > G	Chr9:116,857,320 G > A	Chr9:116,856,631 A > T
dbSNPs	–	rs772936444	rs1847120150
Frequency	–	A = 0.000008 (2/242310, GnomAD_exome) A = 0.000014 (2/140212, GnomAD)	T = 0.000007 (1/140110, GnomAD)
Expected amino acid change (NM_138424)	p.Met338Thr	p.Arg368Ter	c.1222+2 T > A Splicing donor mutation
Age diagnosed with the disease	11 y.o.–died at 18 y.o.	14 y.o.	20 y.o.
Family history/consanguinity	• Parents are first cousins.	• Parents are first cousins. • A brother died of liver disease.	• Parents are first degree cousins. • A similarly affected cousin died and later found to be homozygous for the same mutation.
Liver function tests in plasma	• Elevated bilirubin • Normal albumin • Elevated ALT, AST	• Elevated bilirubin • Elevated ALT, AST • Normal α-fetoprotein • Normal albumin	• Elevated bilirubin • Elevated ALT, AST • Normal α-fetoprotein • Low albumin
Liver-related sonographic and endoscopic findings	• Hepatosplenomegaly • Portal hypertension • No portal thrombosis • Esophageal varices	• Hepatosplenomegaly • Portal hypertension • Esophageal varices • No portal thrombosis • No hepatic occlusion	• Hepatosplenomegaly • Portal hypertension • Esophgeal varices • Spontaneous splenorenal shunt • No hepatic occlusion • No portal thrombosis
Liver histological findings	• Neutrophil infiltration • Bridging fibrosis • Heterogenous liver	• Hepatic fibrosis in infancy • Cholestasis • Bridging fibrosis • Periportal globules, PAS-D positive	• Hepatic fibrosis in infancy • Cholestasis • Bridging fibrosis