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. Author manuscript; available in PMC: 2017 Mar 7.
Published in final edited form as: Genet Med. 2016 Aug 11;19(3):297–305. doi: 10.1038/gim.2016.102

Table 1.

Baseline Plasma Sterols Baseline CSF Sterols
Study
Identifier		 NIH SLOS
Subject
Identifier		 Gender Age at
Enrollment		 DHCR7 Genotype SLOS
Severity
Score		 Fibroblast
Residual
Cholesterol
Synthesis		 Cholesterol
(mcg/ml)		 7DHC
(mcg/ml)		 8DHC
(mcg/ml)		 Percent
DHC/total
sterols		 Cholesterol
(mcg/ml)		 7DHC
(mcg/ml)		 8DHC
(mcg/ml)		 Percent
DHC/total
sterols
S01a SLOS-025 F 10.0 R242C/R450L 11 0.19 1168 40 20 4.9 NSOc NSO NSO NSO
S02 SLOS-055 F 4.4 C380Y/c.964-1 G>C 11 0.61 1287 22 28 3.7 1.94 0.035 0.083 5.7
S03 SLOS-004 M 8.8 c.964-1 G>C/T93M 22 0.21 649 95 85 21.7 1.64 0.065 0.140 11.1
S04b SLOS-026 M 13.3 R242C/R450L 11 0.24 783 33 44 9.0 2.02 0.028 0.084 5.3
S05 SLOS-012 M 8.9 c.964-1 G>C/T289I 11 0.47 1061 28 33 5.4 1.66 0.024 0.077 5.7
S06 SLOS-013 M 10.6 c.964-1 G>C/T289I 6 0.49 1102 20 29 4.3 2.68 0.043 0.132 6.1
S07d SLOS-001 M 7.1 c.964-1 G>C/T93M 11 0.31 858 93 66 15.6 1.69 0.088 0.155 12.6
S08 SLOS-002 M 9.8 W151X/T93M 28 0.19 788 71 63 14.5 2.00 0.081 0.151 10.4
S09 SLOS-024 F 7.6 T154M/R443H 22 0.51 1085 59 54 9.4 1.98 0.029 0.080 5.2
S10 SLOS-018 F 12.0 R242C/W177R 17 0.48 819 40 42 9.1 1.94 0.033 0.073 5.2
S11 SLOS-033 M 5.6 c.964-1 G>C/A247V 6 0.49 1008 63 62 11.0 1.73 0.041 0.079 6.5
S12 SLOS-005 F 17.5 c.964-1 G>C/R352W 17 0.11 849 139 98 21.8 1.22 0.086 0.101 13.3
S13 SLOS-062 F 10.3 P51S/W151X 6 0.27 942 17 28 4.6 1.66 0.020 0.047 3.9
S14b SLOS-034 M 5.7 c.964-1 G>C/V326L 33 0.33
S15 SLOS-060 M 4.8 T289I/c.964-1 G>C 6 0.35 1495 29 49 5.0 1.90 0.036 0.102 6.8
S16 SLOS-063 F 5.4 T93M/R443C 22 0.21 738 168 121 28.1 0.96 0.057 0.094 13.6
S17 SLOS-061 M 6.3 S169L/c.964-1 G>C 11 0.20 1082 2 8 0.9 2.99 0.003 0.028 1.0
S18c SLOS-064 M 4.0 c.964-1 G>C/V466M 11 0.76 467 4.2 3.7 1.7 1.22 0.010 0.038 3.8
S19 SLOS-066 M 4.1 M1V/Q98X 17 0.25 1620 0.8 2.6 0.2 2.18 0.000 0.006 0.3
S20 SLOS-073 M 6.9 M1V/R446Q 6 0.37 1311 0.4 1.4 0.1 3.66 0.002 0.009 0.3
S21 SLOS-068 F 4.1 c.964-1 G>C/Y462H 11 0.66 1053 45 35 7.1 1.85 0.049 0.074 6.2
S22d SLOS-070 M 13.3 W151X/V466M 22 0.29 776 71 68 15.2 1.81 0.097 0.165 12.6
S23 SLOS-056 F 6.1 S192F/Y462H 6 0.51 962 34 29 6.1 1.58 0.026 0.063 5.3
a

Shaded rows indicate phase 1 placebo and phase 2 simvastatin

b

Excluded, Severity Score >30

c

No sample obtained