Table 1 Summary of clinical features of all patients with LTBP4 pathogenic variants
Citations | This report | P1 [2] | P2 [3] | P3 [3] | P4 [3] | P5 [3] | P6 [10] | P7 [10] | P8 [10] | P9 [10] | P10 [10] | P11 [10] | P12 [10] | P13 [10] | P14 [10] | P15 [11] | P16 [11] | P17 [11] | P18 [11] | P19 [12] | P20 [12] | Ration |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Gender/age | F/ 28D | F/ 18MO | M/ 9MO | M/ 4MO | F/ 7Y | F/ 26MO | F/ 23Y | M/ 4W | F/ 3MO | M/ 2Y | M/ 10Y | M/ 6MO | F/ 6MO | F/ 13Y | M/ 6W | M/ 15MO | F/ 14Y | F/ 20Y | M/ 6W | F/ 8Y | M/ 4Y | M/F:1.1:1 4.74 ± 6.95 |
Country/Race | CN | VEN | ESP | MEX | PLE | ESP | NA | NA | NA | NA | NA | NA | NA | NA | NA | White | White | White | TUR | IN | IN | – |
Cutis laxa | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | 100.00% |
Joint laxity | + | + | + | + | + | + | + | − | − | − | − | − | − | − | + | NA | + | + | + | − | − | 55.00% |
Craniofacial | ||||||||||||||||||||||
Consanguinity | − | + | + | − | + | − | − | + | − | + | + | + | + | + | + | − | − | − | + | − | − | 52.38% |
Long philtrum | + | + | + | + | + | NA | − | NA | NA | + | NA | NA | + | + | − | − | + | + | NA | + | + | 80.00% |
Fat midface | + | + | + | + | + | NA | − | NA | NA | − | NA | NA | − | − | − | − | NA | NA | NA | + | + | 53.85% |
Narrow forehead | + | + | + | + | NA | + | − | NA | NA | + | NA | NA | + | + | + | − | + | NA | NA | + | + | 85.71% |
Periorbital swelling | − | + | + | + | NA | NA | − | NA | NA | + | NA | NA | + | − | − | + | NA | NA | NA | NA | NA | 60.00% |
Hypertelorism | + | + | + | + | NA | NA | − | NA | NA | + | NA | NA | + | + | − | + | + | + | + | NA | NA | 84.62% |
Depressed nasal bridge anteverted nares | + | + | + | + | NA | NA | − | NA | NA | + | NA | NA | + | − | + | + | + | NA | NA | NA | NA | 81.82% |
Micrognathia | + | + | + | + | + | + | − | NA | NA | − | NA | NA | − | − | − | − | NA | NA | NA | + | + | 57.14% |
Pulmonary | ||||||||||||||||||||||
Respiratory distress | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | + | NA | NA | − | − | 89.47% |
Pneumonia | + | + | + | − | − | + | NA | NA | NA | NA | NA | NA | NA | NA | NA | + | + | NA | + | − | − | 63.64% |
Laryngomalacia tracheomalacia bronchomalacia | + | − | − | + | NA | + | − | + | − | − | − | − | − | − | + | − | NA | NA | NA | − | − | 29.41% |
Diaphragmatic hernia or eventration | − | + | − | + | + | + | + | − | − | + | + | − | + | − | + | + | NA | NA | NA | − | − | 55.56% |
Emphysema | + | − | + | + | NA | + | + | + | + | + | + | + | + | + | + | + | NA | NA | NA | + | + | 94.12% |
Gastrointestinal | ||||||||||||||||||||||
Diverticula | − | − | − | + | + | NA | − | − | − | − | − | − | + | − | − | + | NA | NA | + | − | − | 27.78% |
Intestinal dilation | + | + | + | + | NA | − | − | − | − | − | − | + | − | − | − | + | NA | NA | + | − | − | 38.89% |
Rectal prolapse | − | − | − | − | + | + | − | − | − | − | + | − | − | − | − | NA | NA | NA | NA | − | − | 17.65% |
Genitourinary | ||||||||||||||||||||||
Bladder diverticula | + | − | + | + | + | NA | + | − | + | − | + | − | − | + | + | + | NA | − | + | + | + | 68.42% |
Hydronephrosis | − | + | + | + | − | NA | − | + | − | − | − | − | − | − | + | NA | NA | NA | NA | − | + | 37.50% |
Inguinal hernia | − | − | + | + | − | − | − | − | − | − | + | − | − | − | − | + | NA | NA | NA | − | − | 22.22% |
Cardiovascular | ||||||||||||||||||||||
Peripheral pulmonary artery stenosis | − | − | + | − | NA | + | + | + | − | + | − | − | + | + | − | + | + | + | + | − | − | 55.00% |
Atrial septal defect or aneurysms | − | + | − | − | NA | − | − | − | − | − | + | − | + | − | − | − | − | + | + | − | + | 30.00% |
Cardiac valve insufficiency | − | − | − | − | NA | − | − | − | − | NA | + | − | + | − | + | + | + | − | − | − | − | 26.32% |
Pulmonary or aortic valve stenosis | − | − | − | − | NA | + | − | − | − | − | − | − | − | − | − | + | − | − | − | − | − | 10.00% |
Pulmonary hypertension | − | − | + | − | NA | + | − | − | − | − | − | + | + | + | + | + | − | + | − | − | − | 40.00% |
Patent foramen ovale | + | − | + | + | − | NA | − | − | − | − | − | − | − | − | + | + | − | − | − | − | − | 25.00% |
Hypotonia | − | + | + | + | NA | + | − | + | − | + | − | − | + | − | + | + | NA | NA | + | + | − | 61.11% |
Death or not | − | − | + | + | − | + | − | + | + | + | + | + | + | + | + | NA | − | − | + | − | − | 60.00% |