TABLE 1.
Patient Phenotype, Age, and ABCD1 Mutation
| Patient Group | Subject | Age, yr | Mutation |
|---|---|---|---|
| Heterozygote | 1 | 65 | c.1832A>G (p.Gln611Arg) |
| 2 | 57 | c.760A>G (p.Thr254Ala) | |
| 3 | 53 | c.463_47delGAGGGCCAACTinsA (p.E155fs*36) | |
| 4 | 51 | c.1679C>T (p.Pro560Leu) | |
| AMN | 5 | 37 | c.565C>T (p.Arg189Trp) |
| 6 | 25 | c.760A>G (p.Thr254Ala) | |
| 7 | 44 | c.1224G>A | |
| 8 | 52 | c.253incC (p.Arg85Profs*110) | |
| 9 | 19 | c.225-245del21 (p.Leu76_Leu82del) | |
| 10 | 43 | c.1772G>A (p.R591Q) | |
| 11 | 33 | c.1772G>A (p.R591Q) | |
| cALD | 12 | 41 | c.1832A>G ; p.Gln611Arg |
| 13 | 10 | c.225-245del21 (p.Leu76_Leu82del) | |
| 14 | 44 | c.1850G>A (p.Arg617His) | |
| 15 | 58 | c.1771C>T (p.Arg591Trp) |
Phenotype, age, and ABCD1 mutation of monophagocytic cell donors.
AMN, adrenomyeloneuropathy; cALD, cerebral adrenoleukodystrophy.