Functional Analysis of UTR Variants at the LDLR and PCSK9 Genes in Patients with Familial Hypercholesterolemia

Table 2

Clinical and biochemical characteristics of patients with LDLR and PCSK9-UTR variants.

ID	Sex	Age	DLCNS FH	Familial history			Physical examination	Personal history	LDL-c (mg/dL)	Canonic variants; ACMG classification	UTR variants
				CADCVD/high LDL-c	Xanthomas early corneal arcus	High LDL-c (<15 y)	Xanthomas early corneal arcus	Early CAD/CPVD
1	F	69	PB	Yes/yes	No	No	No/no	No/no	190-249		LDLR:
2	M	56	PB	No/yes	No	No	No/no	Yes/no	190-249		LDLR: ;LDLR:c.
3	F	62	PB	Yes/no	No	No	No/no	Yes/no	190-249		LDLR:
4	M	59	PB	Yes/yes	No	Yes	No/no	Yes/no	155-189		LDLR:
5	F	60	PS	Yes/yes	No	No	No/no	No/no	190-249		LDLR:
6	F	32	UP	No/yes	No	No	No/no	No/no	155-189		LDLR:
7	F	56	PB	Yes/yes	No	Yes	No/no	No/no	250-329		LDLR:
8	F	64	PB	Yes/no	No	No	No/no	No/no	250-329		LDLR:
9^$	M	38	D	Yes/yes	No	No	Yes/yes	No/no	250-329	LDLR:c.2416dupG: p.(); P	LDLR:
10^$	F	34	PB	No/yes	No	Yes	No/no	No/no	190-249	LDLR:c.2043C>A p.(Cys681Ter); P	LDLR:
11^$	M	7	PB	No/yes	No	Yes	No/no	No/yes	190-249	LDLR: c.1118G>A: p.(Gly373Asp); LP	LDLR:
12^$	F	77	D	No/no	No	No	Yes/no	No/no	250-329	LDLR: c.97C > T: p.(Gln33Ter); P	LDLR:
13^$	M	57	PB	No/no	No	Yes	No/no	Yes/no	190-249	LDLR: c.1951G>T: p.(Asp651Tyr); P	LDLR:
14	M	55	PB	No/yes	No	No	No/no	Yes/no	190-249	APOB: c.7241A>T: p.(Glu2414Val); VUS	LDLR:
15	F	47	PS	No/no	No	No	No/no	Yes/no	190-249		PCSK9:
16	F	54	D	Yes/yes	No	Yes	No/no	No/no	>329		PCSK9:
17	F	12	PS	Yes/no	No	No	No/no	No/no	190-249		PCSK9:
18	M	59	D	Yes/yes	No	No	No/no	Yes/yes	250-329		PCSK9:
19	M	9	PB	No/yes	No	No	No/no	Yes/no	190-249		PCSK9:
20	F	63	PB	No/yes	No	No	No/no	No/yes	250-329		PCSK9: ; PCSK9:
21	F	64	PB	No/yes	No	No	No/no	No/no	250-329		PCSK9:
22	M	40	PB	Yes/yes	No	No	No/no	No/no	190-249		PCSK9:
23^$	F	50	PB	No/yes	No	No	No/no	No/no	250-329	LDLR:c.851G>A: p.(Cys284Tyr); LP	PCSK9:
24^$	F	46	D	Yes/yes	No	Yes	No/yes	No/no	190-249	LDLR:c.1775G>A: p.(Gly592Glu); P	PCSK9:
25^$	M	18	D	Yes/yes	No	No	No/no	No/no	>329	LDLR:c.2093G>A: p.Cys698Tyr; LP PCSK9:c.1633G>A: p.(Ser545Gly); VUS	PCSK9:
26^$	F	75	PB	No/no	No	No	No/no	No/no	>329	LDLR:c.590G>A: p.(Cys197Tyr); P	PCSK9:
27^$	F	57	D	No/yes	No	Yes	No/yes	No/no	>329	LDLR:; P	PCSK9:
28^$	M	21	PS	No/yes	No	No	No/no	No/no	190-249	APOB:c.10580G>A: p.(Arg3527Gln); P	PCSK9:
29	F	41	PS	Yes/no	No	No	No/no	No/no	190-249	APOB:c.11401T>A: p.(Ser3801Thr); VUS	PCSK9:
30	M	55	PB	No/yes	No	No	No/no	Yes/no	190-249	APOB:c.7241A>T: p.(Glu2414Val); VUS	PCSK9:

^$Patients with genetic diagnostic confirmed. Abbreviations: ID: patient identification; FH: familial hypercholesterolemia; DLCNS: Dutch Lipid Clinic Network. According with the DCLN score, the clinical diagnosis of FH can be categorized as follows: D: definite; PB: probable; PS: possible; UP: unlikely; CVD: cardiovascular disease; CAD: coronary artery disease; CPVD: cerebral or peripheral vascular disease; CADD: combined annotation-dependent depletion (); ACMG: American College of Medical Genetics classification; P: pathogenic; LP: likely pathogenic; VUS: variant of uncertain significant. Note: Variants in bold means that they are carried by more than one patient.