Missense mutations of the GFAP gene in 11 patients with AOAD
| Pt/Age/Sex | Missense Mutations | ||
|---|---|---|---|
| Exon | Nucleotide Change | Amino Acid Substitution | |
| 1/26/M | 6 | c.1076T>C | p.L359P* |
| 2/36/F | 8 | c.1178G>T | p.S393I* |
| 3/26/M | 8 | c.1246C>T‡ | p.R416W |
| 4/39/F | 1 | c.209G>A | p.R70Q* |
| 5/30/M | 3 | c.613G>A | p.E205K† |
| 6/43/F | 1 | c.208C>T‡ | p.R70W |
| 7/61/M | 6 | c.994G>A | p.E332K |
| 8/58/M | 3 | c.613G>A | p.E205K† |
| 9/52/F | 8 | c.1193C>A | p.S398Y† |
| 10/64/M | 1 | c.382G>A | p.D128N† |
| 11/45/M§ | − | − | − |
Note:—GFAP indicates glial fibrillary acidic protein; AOAD, adult-onset Alexander disease.
* Mutations p.L359P,17 p.S393I,18 and p.R70Q19 have been found in these patients for the first time.
† These mutations have not been reported previously.
‡ Molecular data of patients 3 and 6 have been reported previously.19
§ Patient 11 carried no causative mutations but harbored the p.D157N rare polymorphism.