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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)
Xanthomas Thrombocy-topenia anemia Cardiovascular damage TC(mg/dL) LDL-C
(mg/dL)
SistosteroL
(µmol/L)
ABCG5 ABCG8
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 + + + 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 + + - 213 128 2092.8   Arg263Gln/Glu500Asp fs Ter604 19(14)
67  F + + - 183 NA 684.0 Gly90Glu/Arg389His   20(15)
60 M + - - - 221 NA 794.4   Gly674Arg/Gly674Arg 21(15)
49  F + + - 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 + - - 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 + + - 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 FMb   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 + - - 503 454 541.7 FM   38(20)
8  F - - - 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 + - - 747 553 NA FM   43(20)
3  F + - - 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 + - - 772 606 NA FM   50(20)
12 M + - - 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)
  1. Carotid plaque; heart block; cardiac hypertrophy; premature beats; aortic valve stenosis; aortic valves regulation; mitral regurgitation; pulmonary stenosis; myocardial infarction
  2. Abbreviations: TC total cholesterol, LDL-C low density lipoprotein cholesterol, M male, F female, NA not available, FM found mutation
  3. a +present, - absent
  4. b The article lists mutated genes but does not list specific sites