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Table 1 Clinical features of the STSL group

From: Clinical characteristics of sitosterolemic children with xanthomas as the first manifestation

Case

Age at diagnosis

(years)

Height

(cm)

Features of xanthomas

Chol

(mmol/L)

LDL-c

(mmol/L)

Hb

(g/L)

PLT

(×109/L)

MPV

(fl.)

Gene sequences

1

11.04

136.0

â‘ â‘¡â‘¢

13.23

7.39

112

113

11.40

ABCG5, Exon 3, c.335dupA, p. (Val113fs), He, from Father.

ABCG5, Exon 6, c.751C>T, p. (Gln251*), He, from Mother.

2

0.36

66.2

â‘ â‘¡

9.40

6.89

107

336

-

ABCG5, Exon 10, c.1337G>A, p. (Arg446Gln), He, from Mother.

ABCG5, Exon 3, c.335dupA, p. (Val113fs), He, from Father.

3

8.83

124.0

â‘ â‘¡

9.60

6.70

124

190

12.90

ABCG5, Exon 10, c.1336 C>T, p. (Arg446*), He, from Mother.

ABCG5, Exon 9, c.1166G>A, p. (Arg389His), He, from Father.

4

8.00

114.6

①②⑤

14.49

12.93

108

253

13.60

ABCG5, Intron 7, c.904 + 1G>A, p.?, He, from Mother.

ABCG5, Intron 9, c.1324 + 1delG, p.?, He, from Father.

5

(Sister of case 4)

6.16

112.0

â‘ â‘¡

7.80

5.46

113

346

11.00

ABCG5, Intron 7, c.904 + 1G>A, p.?, He, from Mother.

ABCG5, Intron 9, c.1324 + 1delG, p.?, He, from Father.

6

11.88

139.6

â‘ â‘¡

11.90

8.60

104

252

11.00

ABCG5, Exon 6, c.751 C>T, p. (Gln251*), He, from Mother.

ABCG5, Exon 11, c.1528 C>G, p. (His510Asp), He, from Father.

7

1.24

75.0

①②④⑥

15.02

12.24

107

418

9.50

ABCG5, Exon 10, c1336C>T, p. (Arg446*), He, from Father.

ABCG5, Exon 9, c.1166G>A, p. (Arg389His), He, from Mother.

8

3.04

94.0

â‘ â‘£

14.39

12.74

131

330

9.10

ABCG8, Exon 11, c.1720G>A, p. (Gly574Arg), He, from mother.

ABCG8, Exon 12, c.1877G>T, p. (Gly626Val), He, from Father.

9

7.68

118.0

â‘ â‘¡

15.00

10.35

116

293

10.64

ABCG5, Intron 7, c.904 + 1G>A, Ho, from mother and father, respectively

10

10.73

130.0

â‘ â‘¡â‘¢

11.30

9.25

123

272

-

ABCG5, Exon 6, c.751 C>A, p. (Gln251*), He, from father.

ABCG5, Exon 3, c.335dupA, p. (Val113fs), He, from mother.

Reference range

   

2.90–5.17

2.07–3.36

 

100–300

9.00–13.00

 
  1. MPV, mean platelet volume; ①, multiple; ②, tuberous; ③, fused; ④, intertriginous; ⑤, lobulated; ⑥, patchy; He, heterozygous; Ho, homozygous; -, Missing data
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Lipids in Health and Disease

ISSN: 1476-511X