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. 2020 Jun 25;8:520. doi: 10.3389/fcell.2020.00520

TABLE 1.

Summary of patients within ALD cohort.

Family Age Phenotype ABCD1 mutation ELOVL1 (A > G) CYP4F2 (C > T) APOE rs429358 APOE rs7412 APOE Genotype
1 28 CALD c.1390C>T G/G T/T T/T C/C ε3/ε3
1 28 Non-CALD G/G C/T T/T C/C ε3/ε3
2 30 CALD c.1899delC A/G C/C T/T C/C ε3/ε3
2 30 Non-CALD A/G C/C T/T C/C ε3/ε3
3 38 CALD c.1992-2A>G A/G C/C T/T C/C ε3/ε3
3 36 Non-CALD A/G C/C T/T C/C ε3/ε3
4 6 CALD c.659T>C A/A C/T T/T T/T ε2/ε2
4 8 Non-CALD A/A C/T T/T T/T ε2/ε2
5 16 CALD c.1866-2A>T A/G C/C T/C C/C ε3/ε4
5 18 Non-CALD G/G C/C T/C C/C ε3/ε4
6 27 CALD c.892G>A A/A C/C T/C C/C ε3/ε4
6 25 Non-CALD A/G C/C T/C C/C ε3/ε4

The family number, age at sample collection, ALD phenotype, ABCD1 variant, and genotypes for previously associated modifier alleles for all patients within the cohort.