Table 1.
Clinical Features of the Two FA-Affected Case Subjects
| Individual | PNGS-252 | PNGS-255 |
|---|---|---|
| Sex | female | male |
| Age at BMF (year)a | 7 | 3 |
| First allele | c.4C>G (p.Gln2Glu) | c.4C>G (p.Gln2Glu) |
| Second allele | ∼23 kb deletion (g.202288583_202309772del) | c.180+5G>A (p.Gln37Argfs∗47) |
| Physical abnormalities | left hypoplastic thumb, abnormalities of external genitalia, short stature | bilateral thumb polydactyly, abnormal shape of left ear, dysplasia of middle ear bone, deafness, facial nerve palsy |
| Hematological abnormalities | severe aplastic anemia | MDS (refractory anemia) evolving to AML |
| Age at HSCT (year)b | 13 | 8 |
| Outcome | alive and well 12 years after HSCT | died 5 months after HSCT |
| Solid tumors | none | none |
| Cells from JCRB Cell Bank | AP65P fibroblasts | not available |
| ALDH2 genotype | GA heterozygous | GA heterozygous |
a
The onset of BMF was defined as described.16
b
Haematopoietic stem cell transplantation.