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. Author manuscript; available in PMC: 2011 Jan 1.
Published in final edited form as: Am J Med Genet A. 2010 Jan;152A(1):91–95. doi: 10.1002/ajmg.a.33148

Table 1.

Patient Demographics

Patient Age (years) Gender Severity Score1 Cholesterol mg/dl2 7-DHC mcg/ml2 Genotype
1 5.4 Male 6 36 128 c.964-1G>C/p.A247V
2 4.6 Female 22 55 410 p.T93M/p.R443C
3 9.8 Female 6 100 26 p.P51S/p.W151X
4 6.3 Female 28 56 273 c.964-1G>C/p.T93M
5 11.9 Female 17 70 135 c.964-1G>C/p.Y318N
6 16.1 Male 11 117 59 pC380Y/p.E448K
7 13.0 Male 6 89 52 c.964-1G>C/pT289I
8 12.3 Male 28 18 80 p.V326L/unk3
9 14.3 Female 17 94 81 p.R242C/p.W177R
10 19.9 Female 22 79 142 c.964-1G>C/p.R352W
1

See reference [Kelley and Hennekam, 2000]

2

Initial Values

3

Unknown. Sequencing of genomic DNA showed that the patient is heterozygous for the pV326L mutation. A second mutation was not detected in either coding regions or splice site junctions.