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ONLINE SUPPLEMENT

Infantile cases of sitosterolaemia with novel mutations in the ABCG5 gene:Extreme hypercholesterolaemia is exacerbated by breastfeeding

CONTENTS

Supplemental Fig. 1. Pedigree of the sitosterolemic subjects………………………………………..………………….

Supplemental Fig. 2. Intertriginous xanthomas before and after the treatment in Case 1………………………………

Supplemental Fig. 3. Intertriginous xanthomas in Case 3………………………………………………………………

Supplemental Fig. 4. Intertriginous xanthomas in Case 4 ……………………………………………………………...

Supplemental Table 1. Clinical data of the pedigree (Family 1) ……………………………………………………….

Supplemental Table 2. Clinical data of the pedigree (Family 2) ……………………………………………………….

Supplemental Table 3. Clinical data of the pedigree (Family 3) ……………………………………………………….

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Supplemental Fig. 1. Pedigree of the sitosterolemic subjects

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A B

C D

Supplemental Fig. 2. Intertriginous xanthomas before and after the treatment in Case 1

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4

Supplemental Fig. 3. Intertriginous xanthomas in Case 3

A B

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Supplemental Fig. 4. Intertriginous xanthomas in Case 4

A B

Supplemental Table 1. Clinical data of the pedigree (Family 1)

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Subject (gender)  I.1

(male) 

I.2 (female)

 II.1

(male) 

II.2 (female)

 II.3

(female) 

II.4 (female)

 III.1

Case 1 (female)

 III.2

Case 2 (female)

 

ABCG5 genotype W/M1 W/W M2/W W/M1 W/M1 W/M1 M2/M1 M2/M1Age (yr) 59 58 31 33 31 29 1 0TC (mg/dl) 293 179 185 284 205 226 523 555TG (mg/dl) 196 68 43 148 55 61 244 534HDL-C (mg/dl) 40 75 71 90 71 68 59 34LDL-C (mg/dl) 214 150 105 164 120 146 407 NAApoA-I (mg/dl) 116 164 NA 148 140 148 115 NAApoB (mg/dl) 164 67 NA 125 80 99 232 NAApoE phenotype 4/3 3/2 3/3 3/2 4/2 4/3 3/2 4/3CETP (μg/ml) 3.8 2.3 2.1 4.4 2.6 3.3 5.0 2.6Sitosterol (μg/ml) 13 2.2 9.8 14.6 13.8 10.6 101 33.4Lathosterol (μg/ml) 2.4 0.6 NA 2.9 1.1 0.9 0.6 NACampesterol (μg/ml) 19 1.8 NA 12.2 4.8 5.0 22.9 NACholestanol (μg/ml) 4.1 5.5 NA 28 26.4 13.9 41.7 NA  ABCG5 genotype:W=wild type, M1=c.1306G>A, M2=c.1813_1817delCTTTT

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Subject (gender)  I.1

(male) 

I.2 (female)

 I.3

(female) 

II.1 (male)

 II.2

(male) 

II.3 (female)

 III.1

(male) 

III.2Case 3

(female) 

ABCG5 genotype W/M1 W/W M3/W W/M1 W/W M3/W W/M1 M3/M1Age (yr) 63 60 73 36 34 34 5 1TC (mg/dl) 226 222 319 238 213 318 176 870TG (mg/dl) 59 54 505 151 87 91 55 260HDL-C (mg/dl) 38 55 41 40 56 107 38 48LDL-C (mg/dl) 176 166 NA 174 140 182 127 796ApoA-I (mg/dl) 166 142 151 NA 150 NA 108 NAApoB (mg/dl) 109 113 148 NA 107 NA 88 NAApoE phenotype 3/3 3/3 3/2 3/3 3/3 3/3 3/2 3/3CETP (μg/ml) 1.9 2.7 4.3 2.0 2.0 4.8 3.7 3.4Sitosterol (μg/ml) 7.9 3.2 16.1 7.4 2.7 18 7.9 80Lathosterol (μg/ml) 1.3 4.2 4.1 2.8 5.6 1.1 1 1Campesterol (μg/ml) 14 6.1 28.4 12.9 5.6 26.6 13.2 65.4Cholestanol (μg/ml) 4.2 3.8 12 NA 3.9 NA 3.3 NAABCG5 genotype:W=wild type, M1=c.1306G>A, M3=c.130C>T

Supplemental Table 2. Clinical data of the pedigree (Family 2)

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Subject (gender)  II.1

(male) 

II.2 (male)

 III.1

Case 4 (male)

 

ABCG5 genotype M4/W W/M2 M4/M2Age (yr) 34 38 2TC (mg/dl) 223 185 756TG (mg/dl) 55 48 147HDL-C (mg/dl) 74 51 42LDL-C (mg/dl) 126 127 589ApoA-I (mg/dl) NA NA 97ApoB (mg/dl) NA NA 291ApoE phenotype 3/3 3/3 3/2CETP (μg/ml) 2.0 2.0 3.7Sitosterol (μg/ml) 5.3 5 115Lathosterol (μg/ml) 4.7 1.2 1.2Campesterol (μg/ml) 10.6 9 94.6ABCG5 genotype:W=wild type, M4=c.1336C>T, M2=c.1813_1817delCTTTT

Supplemental Table 3. Clinical data of the pedigree (Family 3)