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. 2007 Jan 19;44(5):298–305. doi: 10.1136/jmg.2006.047258

Table 2 Incorporation of [2‐14C]acetate into cellular sterols and gas chromatography–mass spectrometry sterol analysis of lymphoblastoid cell lines from a patient with known Smith–Lemli–Opitz syndrome and from 22 patients with holoprosencephaly showing an abnormal sterol pattern in the [2‐14C]acetate loading test.

Cholesterol Desmosterol Lathosterol 7‐DHC 8‐DHC Lanosterol DHCR7 mutation
14C acetate loading GC‐MS 14C acetate loading GC‐MS 14C acetate loading GC‐MS 14C acetate loading GC‐MS 14C acetate loading GC‐MS 14C acetate loading GC‐MS
Controls 72–91 91–98 11.7 1.7 11.7 2.4 3.5 0.64 11.7 0.4 8.5 1.3
Patient
SLOS 4.9 60 25 0.1 25 4.7 61 32 25 3.7 8.0 0.1 R352W/IVS8‐1G>C
144 63 91 15 2.3 15 2.1 4.8 0.6 15 0.3 8.9 1.9 ND
329 60 95 16 0.9 16 1.9 9.6 0.4 16 0.2 7.4 0.3 −/−
331 36 94 37 0.7 37 3.6 13 0.9 37 0.4 8.4 0.1 −/−
383 68 93 13 0.4 13 5.1 6.9 0.8 13 0.4 3.3 < dl −/−
613 19 72 23 0.1 23 3 47 22 23 1.8 6.3 0.2 T154R/G410S
646 34 97 38 < dl 38 1.6 11 0.8 38 0.2 8.6 < dl ND
719 62 95 17 0.3 17 2.0 5.4 0.5 17 0.3 8.0 < dl −/−
811 76 94 11 0.4 11 1.8 5.8 1.4 11 0.2 3 < dl −/−
859 37 92 21 5.4 21 1 11 0.7 21 0.7 22 < dl ND
887 56 94 19 0.8 19 2.1 6.2 0.4 19 0.2 7 0.4 −/−
893 64 91 18 0.3 18 5.8 2.8 0.9 18 0.5 9.2 0.1 ND
1265 63 93 14 0.2 14 0.9 14 0.9 14 1.5 6.9 < dl −/−
6006 48 94 18 0.4 18 1.3 19 1.6 18 0.4 3.9 < dl −/−
6833 75 95 11 0.4 11 2.2 7.9 0.4 11 0.2 3.2 0.4 −/−
7304 58 94 21 0.9 21 1.9 11 0.5 21 0.2 5.4 0.5 −/−
7334 77 94 7.6 0.4 7.6 2.1 5.6 0.5 7.6 0.4 5.9 0.1 R242H/−
7835 66 96 14 0.6 14 1.6 12 0.9 14 0.3 4.9 0.4 −/−
7858 74 93 10 0.4 10 0.8 11 0.3 10 0.2 2.6 0.2 −/−
7880 51 91 18 0.5 18 1.7 12 0.3 18 0.2 5.1 0.3 −/−
8064 61 94 18 0.9 18 1.5 5.9 0.7 18 0.4 8.6 0.5 ND
8103 42 97 22 1.1 22 0.7 14 0.3 22 0.2 8.6 0.3 ND
8121 66 93 14 0.3 14 1.3 13 0.3 14 0.1 2.7 0.3 −/−

DHC, dehydrocholesterol; DHCR, 7‐dehydrosterol reductase; GC‐MS, gas chromatography‐mass spectrometry; ND, not detected; SLOS, Smith–Lemli–Opitz syndrome.

Indicated is the percentage of total sterols, mean of three independent experiments ([2‐14C]acetate‐loading) or two independent experiments (GC‐MS). The control values represent mean (2 SD) of nine controls (cholesterol) or mean (2 SD) (cholesterol precursors). Data are printed in bold if they fell below this range (cholesterol) or exceeded this range (cholesterol precursors).