Table 4.
Detection of gene variants in JPS
| Study | Number of patients/families fulfilling clinical Jass criteria | Technique | Genes investigated | Variant detection rate in SMAD4 or BMPR1A (per family) | BMPR1A | SMAD4 | PTEN | BMPR1A/PTEN deletion |
|---|---|---|---|---|---|---|---|---|
| Aretz et al. [7] | 65/65 | SS + MLPA | PTEN*, BMPR1A, SMAD4, | 39 (60%) | 16 (25%) | 23 (35%) | 2 (5%) | – |
| Van Hattem [8] | 29/27 | SS + MLPA | PTEN, BMPR1A, SMAD4, ENG | 13/27 (48%) | 4 (15%) | 7 (26%) | – | 2 (7%) |
| Calva-Cerqueira [5] | 102/102 | SS + MLPA | BMPR1A, SMAD4 | 45 (45%) | 22 (23%) | 22 (22%) | – | 1 (1%) |
| Latchford et al. [1] | 31/17 | NR | NR | 14 (82%) | 9 (29%) | 19 (61%) | – | – |
| MacFarland [6] | 118/? | Sequencing and CNV analysis | BMPR1A, SMAD4 | 54 (46%)** | 24 (20%) | 27 (23%) | – | 3 (3%) |
| Present study | 31/27 | NGS panel + WGS | See text | 23 (85%) | 6 (19%) | 19 (61%) | 1 (3%) | 1 (3%) |
SS Sanger sequencing, NR not reported
*In 60% of the patients, PTEN was not analyzed
**Per patient