Table 1 Results from the clinical examination of the five translocation carriers

From: Haploinsufficiency of ARHGAP42 is associated with hypertension

  II.2 III.2 III.4 III.5 (Proband) IV.4
Gender Female Male Male Female Female
Age (years) 77 57 54 50 23
BMI (kg/m2) 36.1 34.3 35.5 42.6 20.8
Body fat percentage (%) 47.2 33.8 32.6 49.6 30.1
Fasting p-glukose (mmol/L) 7.6 6.0 6.0 6.2 4.8
Oral glucose tolerance test, p-glucose at 120 min (mmol/L) 11.0 5.9 3.9 6.7 5.4
Fasting s-insulin (pmol/L) 125 141 62 137 43
Oral glucose tolerance test, s-insulin at 120 min (pmol/L) 940 361 111 373 173
HbA1c (mmol/L) 42 37 38 38 N/A
Plasma cholesterol (mmol/L) 5.1 6.0 5.1 4.2 4.8
Urinary test Blank Blank Blank Blank Blank
ECG Normal Normal Atrial fibrillation Normal Normal
Blood pressure (systolic/diastolic mmHg) 126/73a 130/90a 134/87a 134/95a 121/64
Antihypertensive treatment From 35 years From 48 years From 45 years From 35–38 years  
Medicine in 2017 Losartan-Hydrochlorothiazide 100 mg/12.5 mg × 1; Metoprolol 25 mg × 1; Acetylsalicyl acid 75 mg × 1 Enalapril 10 mg × 1 Captopril 25 mg × 3; Felodipine 5 mg × 1; Warfarin 2.5 mg × 3 Bendroflumethiazide/potassium chloride 2.5 mg/573 mg × 1 Losartan 100 mg × 1; Felodipine 10 mg × 1; Bendroflumethiazide/potassium chloride 2.5 mg/573 mg × 1 None
Other diseases   Psoriasis   Cervical dysplasia  
  1. aBlood pressure when treated with antihypertensive medicine
  2. BMI body mass index, ECG electrocardiography, p plasma, s serum
  3. Values exceeding the recommended thresholds are indicated in bold