Effects of familial hypercholesterolemia-associated genes on the phenotype of premature myocardial infarction

Table 5 Clinical phenotypes of LDLR, APOB, PCSK9 and LDLRAP1 gene mutations

Case	Gene	Function	Exon	Sites of the Mutation	LDL-C (mmol/L)	Gensini Scores
Case1	LDLR	Missense	3	c.241C > T	4.86	40
Case2	LDLR	Missense	3	c.292G > A	3.89	48
Case3	LDLR	Missense	10	c.1525A > G	8.00	54
Case4	LDLR	Missense	11	c.1691A > G	4.35	128
Case5	LDLR	Missense	11	c.1691A > G	7.25	100
Case6	LDLR	Missense	13	c.1867A > T	5.72	104
Case7	LDLR	Missense	14	c.2054C > T	7.74	78
Case8	LDLR	Missense	14	c.2054C > T	6.37	157
Case9	APOB	Missense	26	c.10579C > T	4.93	57
Case10	PCSK9	Missense	2	c.277C > T	3.26	40
Case11	PCSK9	Missense	2	c.277C > T	2.68	40
Case12	PCSK9	Missense	2	c.277C > T	1.66	168
Case13	PCSK9	Missense	2	c.277C > T	3.46	12
Case14	PCSK9	Missense	2	c.277C > T	3.02	65
Case15	PCSK9	Missense	3	c.1792G > A	3.60	117
Case16	LDLRAP1	Missense	1	c.65G > C	2.66	54
Case17	LDLR+PCSK9+LDLRAP1				2.50	62

LDLR low-density lipoprotein receptor, APOB apolipoprotein B, PCSK9 proprotein convertase subtilisin/kexin type 9, LDLRAP1 low-density lipoprotein receptor adaptor protein 1

ISSN: 1476-511X