Features of chinese patients with sitosterolemia

Zhou, Zhizi; Su, Xueying; Cai, Yanna; Ting, Tzer Hwu; Zhang, Wen; Lin, Yunting; Xu, Aijing; Mao, Xiaojian; Zeng, Chunhua; Liu, Li; Li, Xiuzhen

doi:10.1186/s12944-021-01619-1

Lipids in Health and Disease

Table 2 A summary of clinical findings, laboratory serum lipid profiles, and ABCG5/ABCG8 mutations in 55 Chinese sitosterolemia patients

From: Features of chinese patients with sitosterolemia

Age at diagnoses (year)	Sex	Clinical Features				lipid profile			Gene mutation		Case (Ref)
Age at diagnoses (year)	Sex	Xanthomas	Thrombocy-topenia	anemia	Cardiovascular damage	TC(mg/dL)	LDL-C (mg/dL)	SistosteroL (µmol/L)	ABCG5	ABCG8	Case (Ref)
7	M	+^a	-	-	-	709	636	2300.0	Arg419His/IVS12+1G>A		1(12)
8	F	+	-	-	-	427	346	NA	Tyr329Ter/Asn437Lys		2(13)
1.5	F	+	-	-	-	705	565	170.4	Arg389His/Arg446Ter		3(13)
0.25	F	-	-	-	-	402	304	220.1	Arg389His/Arg446Ter		Sibling of case3(13)
1.9	F	+	-	-	-	640	519	169.7	Arg389His/Arg389His		5(13)
12	F	+	-	-	-	343	263	147.4	Arg389His/Gly269Arg		6(13)
25	F	+	+	+	①	206	155	662.4	Glu22Ter/Glu22Ter		7(14)
24	F	+	+	+	-	220	151	1164.0	Glu22Ter/Glu22Ter		Sibling of case7(14)
23	M	+	+	+	-	135	89	861.6	Glu22Ter/Glu22Ter		Sibling of case7(14)
34	F	+	+	+	-	220	151	1380.0	Arg446Ter/Arg446Ter		10(14)
43	F	+	+	+	-	339	236	1879.2		Met614-Lys628del/Glu25Ter	11(14)
61	M	+	+	+	-	332	221	1173.6	g.9+2 A>G/Arg446Ter		12(14)
58	M	+	+	+	-	144	65	710.4	g.9+2 A>G /Arg446Ter		Sibling of case12(14)
57	M	+	+	+	-	348	224	564.0	g.9+2 A>G /Arg446Ter		Sibling of case12(14)
53	F	+	+	+	-	339	236	1485.6	g.9+2 A>G /Arg446Ter		Sibling of case12(14)
31	M	-	+	-	-	316	199	1653.6	Arg419His/Arg419His		16(14)
58	M	+	+	+	-	128	109	1608.0		Leu86Pro fs Ter185/ Leu86Pro fs Ter185	17(14)
45	F	+	+	+	-	228	109	2164.8	g.ISV7+3G>A/ g.ISV7+3G>A		18(14)
59	F	+	+	-	②	213	128	2092.8		Arg263Gln/Glu500Asp fs Ter604	19(14)
67	F	+	+	-	③⑨	183	NA	684.0	Gly90Glu/Arg389His		20(15)
60	M	+	-	-	-	221	NA	794.4		Gly674Arg/Gly674Arg	21(15)
49	F	+	+	-	④	203	NA	686.4		Gly674Arg /Gly674Arg	22(15)
45	F	-	-	-	-	191	NA	645.6		Gly674Arg/ Gly674Arg	23(15)
45	M	+	-	-	-	153	NA	422.4	g.7+2G>A/ g.7+2G>A		24(15)
44	F	+	-	-	④	213	NA	686.4	Arg446Ter / Arg446Ter		25(15)
39	F	+	-	-	-	NA	NA	NA	Arg389His/Arg389His		26(15)
15	F	+	-	-	-	291	178	582		Arg146Ter /Leu650Arg	27(16)
14	M	+	+	-	⑤⑥	412	332	516.9	Arg446Ter /Arg446Ter		28(17)
6.2	M	+	-	-	-	559	349	231.2		Arg263Gln/c.1528_1530delATC	29(18)
5	F	+	-	-	-	599	524	177.7	Asn437Lys/ Gln251Ter		30(18)
1.3	F	+	-	-	-	613	483	114.2	Arg446Ter / Gln251Ter		31(18)
9	M	+	-	-	-	557	430	NA	Arg389His/ Arg389His		32(19)
7	M	+	-	-	-	478	359	NA	Gln251Ter / Gln251Ter		33(19)
2	M	+	-	-	-	669	559	318.9	FM^b		34(20)
2	F	+	-	-	-	942	735	132.5	FM		35(20)
2	F	+	-	-	-	448	401	469.7	FM		36(20)
5	M	+	-	-	-	755	569	392.7		FM	37(20)
7	M	+	-	-	①⑥	503	454	541.7	FM		38(20)
8	F	-	-	-	⑦	318	255	237.9	FM		Sibling of case35(20)
1	M	-	-	-	-	410	347	NA	FM	FM	40(20)
2	F	+	-	-	-	613	549	NA	FM		41(20)
2	M	+	-	-	-	593	483	NA		FM	42(20)
2	F	+	-	-	⑦	747	553	NA	FM		43(20)
3	F	+	-	-	①	565	472	NA		FM	44(20)
5	M	+	-	-	-	530	355	NA	FM		45(20)
5	M	-	-	-	-	389	240	NA		FM	46(20)
7	M	-	-	-	-	457	314	NA	FM		47(20)
7	M	+	-	-	-	549	369	NA		FM	48(20)
8	M	+	-	-	-	567	404	NA	FM		49(20)
9	F	+	-	-	⑧	772	606	NA	FM		50(20)
12	M	+	-	-	①⑥	468	338	355.8	FM		51(20)
1	F	+	-	+	-	800	549	20.6	Gln251Ter /Arg446Gln		52(21)
1.4	M	+	-	+	-	348	256	11.7	c.904+1G>A/c.-76 C>T		53(21)
8	M	-	+	+	-	239	146	32.2		c.965-1G>A/Ser473Ter	54(21)
3	F	+	-	-	-	483	414	9.9		c.323-1G>C/Gly512Arg	55(21)

①Carotid plaque; ②heart block; ③cardiac hypertrophy; ④premature beats; ⑤aortic valve stenosis; ⑥aortic valves regulation; ⑦mitral regurgitation; ⑧pulmonary stenosis; ⑨myocardial infarction
Abbreviations: TC total cholesterol, LDL-C low density lipoprotein cholesterol, M male, F female, NA not available, FM found mutation
^a +present, - absent
^b The article lists mutated genes but does not list specific sites

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ISSN: 1476-511X

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