Table 1. Clinical characteristics of the POLD1 mutation-caused MDPL patient presented here compared to previously described subjects.
| Clinical features | Study patient | Previous studiesa (n=13) |
|---|---|---|
| Age (years; range, median) | 11 | 10–62, 25 |
| Sex | Male | 6 males, 7 females |
| Birth weight (kg; range, mean) | 2.692 | 2.4–4.2, 3.23 (n=9) |
| Height (cm) | 125.2 | — |
| Weight (kg) | 24.58 | — |
| BMI (kg/m2; range, mean) | 15.7 | 13.8–26.8, 17.5 |
|
Metabolic profile | ||
| Diabetes mellitus | N | 5/13 |
| Hepatic steatosis | Y | 4/6 |
| ALT (U/l) | 52 (5–40) | Abnormal LFT 5/8 |
| Total cholesterol (mg/dl) | 141 (130–220) | High 8/10 |
| Triglycerides (mg/dl) | 125 (35–150) | High 9/11 |
| Leptin (ng/ml) | 10.9 | 4.4–8.2, 5.6 (n=4) |
|
Morphology | ||
| Short stature | Y | 8/13 |
| Tight skin around cheeks and small nasal bones | Y | 13/13 |
| Mandibular underdevelopment | Y | 12/13 |
| Dental overcrowding/irregular teeth | Y | 10/13 |
| Telangiectasia | N | 9/13 |
| Thin arms and legs with wide trunk | Y | 13/13 |
| High pitched voice | Y | 9/12 |
| Hearing impairment | Y | 10/13 |
|
Musculoskeletal | ||
| Joint contractures | Y | 5/13 |
| Muscle wasting | Y | 11/13 |
| Kyphosis/scoliosis | N | 4/5 |
| Hypogonadism | Y | 4/5 males |
| Abnormal cognitive function | N | 1/12 |
Abbreviations: ALT, alanine aminotransferase; BMI, body mass index; LFT, liver function test; MDPL, mandibular hypoplasia, deafness, progeroid features and lipodystrophy; N, no; Y, yes.
a
Previously reported cases with POLD1 mutation-caused MDPL.