Table 1.
Clinical manifestations, and genotypes of individuals with monoallelic ABHD5 mutations.
| No. | Patient | Phenotype | Age (yrs) | Gender | Levels of Ch, TG (mg/dl) | Liver enzymes levels | NAFLD grades+ | FIB-4 score | Weight (kg) | Height (m) | BMI | Other diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Family 1: c.40G>T, p.G14* | ||||||||||||
| 1 | II:1* | NAFLD, DL | 76 | M | TG:284 CH:248 |
High | 1 to 2 | 64 | 1.78 | 20.2 | ||
| 2 | II:7 | NAFLD, DL | 67 | F | TG:256 CH:235 |
High | 2 | 76 | 1.71 | 26.0 | Hypertension, heart arrhythmia | |
| 3 | II:9 | NAFLD, DL | 64 | F | TG:188–212, Ch:210–244 |
High | 1 | 55 | 1.63 | 20.7 | ||
| 4 | III:2 | DL | 51 | F | TG:179 CH:255 |
Moderately raised | – | 63 | 1.59 | 24.9 | ||
| 5 | III:3 | NAFLD, DL | 48 | M | TG:287–324, Ch:237–269 |
High | 2 | 82 | 1.75 | 26.8 | Hypertension | |
| 6 | III:8 | NAFLD, DL | 42 | M | TG:195 CH:230 |
High | 2 | 57 | 1.65 | 20.9 | ||
| 7 | IV:1 | NAFLD, DL | 26 | M | TG:171–188, Ch: 218–240 |
High | 1 | 59 | 1.74 | 19.5 | Left varicocele (grade II) | |
| 8 | IV:3 | NAFLD, DL | 23 | M | TG:165, Ch:215 |
Moderately raised | 1 | 61 | 1.58 | 24.4 | ||
| 9 | IV:5 | NAFLD, DL | 21 | F | TG:155–171, Ch:205–226 |
Moderately raised | 0 to 1 | 66 | 1.79 | 20.6 | Pollen allergy, chronic fatigue | |
| Family 2: c.727delGA, p.D243Y*fs10 | ||||||||||||
| 10 | II-2 | DL | 77 | F | TG:235 Ch:249 |
Normal | – | 2.54 | 45 | 1.55 | 18.7 | |
| 11 | II-4 | NAFLD, DL, DM | 57 | F | LDL:190 Ch:285 |
Normal | 1 | 60 | 1.63 | 22.6 | Skin cancer | |
| 12 | III-3 | DL, DM | 46 | F | TG:224 Ch:231 |
Normal | −(S0) | 60 | 1.6 | 23.4 | ||
| 13 | III-4 | NAFLD, DL | 38 | F | TG: 457, CH:259 | High | 1 to 2 | 0.87 | 60 | 1.6 | 23.4 | Hypothyroidism |
| 14 | III-5 | NAFLD, DL | 44 | M | Ch:240 | Normal | 1 | 70 | 1.9 | 19.4 | ||
| 15 | III-7 | NAFLD | 59 | M | Normal | Normal | 1 | 0.82 | 73 | 1.78 | 23 | |
| 16 | III-8 | NAFLD, DL, DM | 47 | F | Ch:285 | Normal | 1 | 90 | 1.58 | 36.1 | Focal nodular hyperplasia | |
| 17 | IV-5 | NAFLD, DL | 32 | M | Ch:254 | High | 1 | 0.77 | 89 | 1.8 | 27.5 | |
| 18 | IV-6 | NAFLD | 29 | M | Normal | High | 1 | 0.74 | 85 | 1.81 | 25.9 | |
| 19 | IV-7 | NAFLD, DL | 28 | F | LDL:108 | Normal | 1 | 63 | 1.6 | 24.6 | ||
| 20 | IV-8 | NAFLD, DL | 40 | M | LDL:126 | Normal | 2 | 80 | 1.83 | 23.9 | ||
| 21 | IV-9 | NAFLD, DL | 42 | F | LDL:117 | Normal | 1 | 72 | 1.65 | 26.4 | Hypertension, Infertility |
|
| Family 3: c.593_594insC, p.R199Qfs*11 | ||||||||||||
| 22 | II-3 | NAFLD, DM |
70 | F | Normal | Normal | 1 | 62 | 1.65 | 22.8 | ||
| 23 | III-1 | NAFLD, DM |
57 | M | Normal | Normal | 1 | 80 | 1.85 | 23.4 | ||
| 24 | III-2 | NAFLD, DL | 48 | F | Ch:230 | Normal | 1 | 0.81 | 68 | 1.74 | 22.5 | |
| 25 | III-3 | NAFLD | 57 | M | Normal | Normal | 2 | 0.88 | 74 | 1.7 | 25.6 | |
| 26 | III-4 | NAFLD, DM |
47 | F | Normal | Normal | 1 | 85 | 1.65 | 31.2 | Hypothyroidism | |
| 27 | IV-1 | NAFLD | 31 | M | Normal | High | 1 | 0.24 | 100 | 1.89 | 28 | Immune thrombocytopenic purpura |
| Family 4: c.593_594insC, p.R199Qfs*11 | ||||||||||||
| 28 | IV-6 | NAFLD | 36 | M | Normal | Normal | 1 (S2) | 0.88 | 100 | 1.9 | 27.7 | |
| 29 | IV-7 | NAFLD | 38 | F | Normal | Normal | − (S2) | 0.52 | 60 | 1.56 | 24.7 | |
| Family 5: c.977G>A, p.G326E | ||||||||||||
| 30 | III-1 | NAFLD, DL | 59 | F | LDL: 136 (<130) Ch:224 | Normal | 1 (S2) | 1.11 | 85 | 1.7 | 31.2 | Hypothyroidism |
| 31 | IV-1 | NAFLD | 36 | M | Normal | Normal | − (S2) | 80 | 1.83 | 23.9 | ||
| 32 | IV-2 | Normal | 29 | F | Normal | Normal | 0 to 1 (S2) |
73 | 1.68 | 25.9 | ||
| 33 | III-2 | NAFLD | 64 | M | Normal | n.a. | (S3) | 100 | 1.78 | 31.6 | ||
| Family 6: c.344G>A, p.S115N | ||||||||||||
| 34 | III-3 | NAFLD, DL | 60 | F | Ch:218 | Normal | 1 | 1.79 | 63 | 1.6 | 24.6 | (Atorvastatin 20 mg/day) |
| 35 | IV-1 | NAFLD | 35 | F | Normal | Normal | 2 | 75 | 1.7 | 26 | ||
| 36 | IV-2 | NAFLD, DL, DM | 43 | M | TG:356 | High | 1 (S3) | 0.94 | 76 | 1.73 | 25.4 | |
| 37 | IV-3 | Normal | 40 | F | Normal | Normal | – | 1.41 | 60 | 1.6 | 23.4 | |
| Family 7: c.560_578 delTTGCTGATCAAGACAGACC | ||||||||||||
| 38 | I-1 | NAFLD | 26 | F | Normal | Normal | 1 | 68 | 1.62 | 25.91 | ||
| 39 | I-2 | NAFLD | 28 | M | Normal | Normal | 1 | 72 | 1.75 | 23.5 | ||
BMI, body mass index; Ch, cholesterol; DL, dyslipidemia; DM, diabetes mellitus; LDL, low-density lipoproteins; n.a., not available; NAFLD, non-alcoholic fatty liver disease; TG, triglyceride.
*
No more than 1 glass of wine or beer twice a day, during lunch and dinner (no alcohol intake outside meals).
+
The values were obtained by ultrasound, while those in parenthesis were acquired by FiboScan.