Table 2.
Overview of phenotype-genotype correlations of FAN1-mutation related disease.
| Patient | A | B | C | D | E |
|---|---|---|---|---|---|
| Stature | Normal | Short | Short | Short | Short |
| Emaciation (BMI, kg/m2) | No (27.0) | Yes (19.1) | Yes (19.2) | Yes (20.6) | Yes (20.0) |
| Skin color | White | Café au lait | Café au lait | Café au lait | Café au lait |
| Hair color | Blonde | Brown | Brown | Brown | Brown |
| Facial freckles | No | Yes | Yes | Yes | Yes |
| Nose | Nothing special | Hawk-like | Hawk-like | Hawk-like | Hawk-like |
| Mental capacity | Average | Below average | Illiterate | Just average | Just average |
| ESRD | Yes | Yes | Yes | Yes | Yes |
| Elevated liver enzymes | Yes | Yes | Yes | Yes | Yes |
| Chronic lung disease | No | Emphysema | Lung fibrosis | No | No |
| Recurrent URTI | No | No | No | No | No |
| Malignancy | No | No | No | No | No |
| KIN/systemic KM | Yes | Yes | Yes | Autopsy not performed | Yes |
| FAN1 status | Homozygous | Homozygous | Heterozygous | Not available | Homozygous |
Abbreviations: BMI—body mass index, ESRD—end-stage renal disease, FAN1—Fanconi-anemia-associated nuclease-1 gene, KM—karyomegaly, KIN—karyomegalic interstitial nephritis, URTI—upper respiratory tract infections.