Somatic abnormalities in Fanconi anemia patients with common mutations
| Mutation . | Abnormality . | Mutation present3-150 . | Mutation absent3-150 . | P value . |
|---|---|---|---|---|
| FANCA/1263delF | GIT | 3/9 | 10/121 | .047 |
| FANCA/delE12-31 | Skin | 38/44 | 56/83 | .032 |
| Head | 34/44 | 46/86 | .013 | |
| Radial ray | 32/44 | 39/86 | .005 | |
| Total number | 4.02 | 3.17 | .011 | |
| Anatomic sites | 2.25 | 1.66 | .013 | |
| FANCC/IVS4+4A>T | Radial ray | 4/5 | 2/28 | .002 |
| Kidney | 4/5 | 4/28 | .008 | |
| GIT | 4/5 | 1/28 | .0006 | |
| CNS | 4/5 | 0/28 | .0001 | |
| Total number | 5 | 1.32 | < .0001 | |
| Anatomic sites | 4 | 0.57 | < .0001 | |
| FANCC/322delG | Total number | 1.06 | 2.75 | .021 |
| Anatomic sites | 0.47 | 1.75 | .0096 |
| Mutation . | Abnormality . | Mutation present3-150 . | Mutation absent3-150 . | P value . |
|---|---|---|---|---|
| FANCA/1263delF | GIT | 3/9 | 10/121 | .047 |
| FANCA/delE12-31 | Skin | 38/44 | 56/83 | .032 |
| Head | 34/44 | 46/86 | .013 | |
| Radial ray | 32/44 | 39/86 | .005 | |
| Total number | 4.02 | 3.17 | .011 | |
| Anatomic sites | 2.25 | 1.66 | .013 | |
| FANCC/IVS4+4A>T | Radial ray | 4/5 | 2/28 | .002 |
| Kidney | 4/5 | 4/28 | .008 | |
| GIT | 4/5 | 1/28 | .0006 | |
| CNS | 4/5 | 0/28 | .0001 | |
| Total number | 5 | 1.32 | < .0001 | |
| Anatomic sites | 4 | 0.57 | < .0001 | |
| FANCC/322delG | Total number | 1.06 | 2.75 | .021 |
| Anatomic sites | 0.47 | 1.75 | .0096 |
Patients with at least one allele of the common mutation compared against all other Fanconi anemia patients from the same complementation group. The number of abnormalities is greater for these mutations, with the exception of 322delG.
GIT indicates gastrointestinal tract; CNS, central nervous system.
Proportion of patients with/without abnormality or mean number of abnormalities.