Table 2.
Features of individuals with C16orf57 mutations
| Identification | 279 |
070 |
224 |
107 |
106 | 215 | RT 1 |
RT 2 | RT 3 | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Diagnosis (reference) | DC |
DC/PN (18,21) | DC |
DC |
DC | DC | RTS (28) | RTS | RTS | ||||||
| Mutation | H179M fsX86 |
P60L fsX55 |
Y86X |
H179M fsX86 |
c.450-2A>G | H179M fsX86 | ND | W81X | G59A fsX2 | Q181X | |||||
| Clinical feature | |||||||||||||||
| Abnormal skin (poikiloderma) | +(1y) | + (1y) | + | + | +(1y) | +(4y) | +(6y) | +(1y) | +(1y) | +(1y) | +(1y) | + | + | + (<2y) | + (6m) |
| Nail dystrophy | +(1y) | +(1y) | + | + | + | +(3y) | +(6y) | +(1y) | +(1y) | +(5y) | + | + | + | ||
| Leucoplakia | + | + | + | ||||||||||||
| Epiphora | + | + | + | + | |||||||||||
| Head abnormality | Tear duct | Tear duct | Tear duct | Abnormal ear, hearing loss | Abnormal ear | Hair loss | Sparse eyelashes | Nasal bridge | Prominent forehead | ||||||
| Dental problems | + | + | + | + | + | + | + | + | + | ||||||
| Skeletal | Osteoporosis | + | Osteoporosis | ||||||||||||
| Liver–spleen | Enlarged | Enlarged | |||||||||||||
| Phimosis | + | ||||||||||||||
| Pulmonary | + | + | + | + | + | + | + | ||||||||
| Cardiac | VSD | ||||||||||||||
| IUGR | + | ||||||||||||||
| Short stature | + | + | + | + | + | + | + | + | + | ||||||
| Low BW | + | + | + | + | |||||||||||
| Dev delay | + | + | + | + | + | ||||||||||
| Cancer | AML | AML | Skin | ||||||||||||
| Blood | |||||||||||||||
| Hb | N | Low | N | N | Low | Low | N | Low | N | Low | N | Low | N | ||
| WBC Neutrophils | Low | Low | Low | Low | Low | Low | Low | Low | Low | Low | Low | Died AML 1988 | Lowa | Lowa | Low |
| Platelets | Low | Low | Low | Low | Low | Variable | N | N | N | N | N | N | N | N | |
| Bone marrow | N | Hypo-cellular | Hypo-cellular | Hypo-cellular | MDS changes Myeloid maturation defect | MDS changes | MDS changes | MDS changes | MDS changes | Hypo-cellular | Hypo-cellular | ||||
| Immuno-globulins | ↑ | ↑ | ↑ | ||||||||||||
Mutations identified in nine families (14 affected individuals): five DC families (279, 224, 107, 106, 215), one DC/PN (070), three RTS families (RT1, RT2, RT3).
AML, acute myeloid leucaemia; BM, bone marrow; ND, not determined; Hb, haemoglobin; MDS, myelodysplasia; VSD, ventricular septal defect; WBC, white blood cells; N, normal; plus, feature present; upward arrow, increased levels. Age in brackets is in months (m) or years (y).
aLow neutrophils and lymphocytes—in all other patients, the low WBC count was mainly due to the low neutrophil count. The pulmonary abnormalities included bronchiectasis (DCR279), chronic pulmonary infiltrates (DCR070), pulmonary cystic changes (DCR107), recurrent chest infections (DCR279, DCR070, RT1) and restrictive lung disease (DCR107). Imaging of the liver in DCR106 and DCR107 showed no evidence of cirrhosis. Bone marrows which showed hypocellularity were usually associated with some features of dysplasia. BM cytogenetic analyses were undertaken in some patients (DCR070, RT1 and RT2), and these showed no abnormal cytogenetic clones.