Table 1.
Summary of the clinical and genetic results of patients with FD/MAS suspicion. -: no sample available; F: female; M: male; GH: growth hormone; ND: no data; *: tissue is paraffin-embedded. Samples with a positive genetic result are highlighted in grey (dark grey are samples detected with the integrated software, and light grey are samples detected with IGV).
| Patient Code | Sex | Age at Study | Skeletal Abnormalities |
Skin Abnormalities |
Precocious Puberty | Other Manifestations | Sanger (Blood) | Sanger (Tissue) | NGS (Blood) | NGS (Tissue) |
Mutation |
|---|---|---|---|---|---|---|---|---|---|---|---|
| GS0113 | M | 12 | ND | Yes | ND | ND | Negative | Negative (skin) | - | Negative (skin) | - |
| GS1029 | M | 17 | Yes | No | No | ND | Negative | Positive (bone) |
Negative | Positive (34%) C:225× T:114× (bone) |
p.R201C |
| GS1030 | F | 8 | Yes | Yes | ND | ND | Negative | Negative (bone) |
Negative | Negative (bone) |
- |
| GS1043 | F | 14 | Yes (polyostotic) | Yes | ND | ND | Negative | Negative (skin) |
Negative | Negative (skin) |
- |
| GS1045 | F | ND | ND | ND | ND | ND | Negative | Negative (buccal swab) |
Negative | - | - |
| GS1048 | F | 8 | No | No | Yes | Ovarian cyst | Negative | Negative (ovarian cyst *) | Negative | Sequence of bad quality | - |
| GS1050 | F | ND | ND | Yes | ND | ND | Negative | - | Negative | - | - |
| GS1066 | F | ND | ND | ND | ND | ND | Negative | - | - | - | - |
| GS1072 | F | 10 | ND | Yes | Yes | Ovarian cyst | Negative | Negative (ovarian cyst) |
Negative | Negative (ovarian cyst) |
- |
| GS1077 | F | ND | ND | Yes | ND | ND | Negative | Negative (buccal swab) |
Negative | - | - |
| GS1079 | M | ND | ND | ND | ND | ND | Negative | - | Negative | - | - |
| GS1081 | M | 29 | Yes | Yes | Yes | Hepatic affection | Sample of bad quality | Negative (liver) |
Sample of bad quality | Negative (liver) |
- |
| GS1082 | F | ND | ND | ND | ND | ND | Negative | - | Negative | - | - |
| GS1087 | F | ND | ND | Yes | ND | ND | Negative | Negative (skin) | Negative | Negative (skin) | - |
| GS1091 | F | ND | ND | ND | ND | ND | Negative | - | Negative | - | - |
| GS1098 | F | ND | ND | ND | Yes | ND | Negative | - | Sequence of bad quality | - | - |
| GS1102 | M | 0 | Yes | Yes | ND | Hyperthyroidism | Negative | Negative (skin) |
Positive (5%) G:345× A:18× |
Positive (4%) G:388× A:15× (skin) |
p.R201H |
| GS1105 | M | 8 | Yes (polyostotic) | ND | ND | ND | Negative | Negative (bone *) |
Positive (3%) G:230× A:8× |
Negative (bone *) |
p.R201H |
| GS1109 | F | 1 | Yes | Yes | ND | Hyperthyroidism | Negative | Positive (thyroid) |
Positive (1%) G:256× A:2× |
Positive (25%) G:207× A:71× (thyroid) |
p.R201H |
| GS1128 | F | 29 | Yes | No | No | ND | - | Positive (bone) |
- | - | p.R201C |
| GS1144 | F | 9 | ND | Yes | Yes | ND | Negative | - | Negative | - | - |
| GS1172 | M | 9 | Yes (polyostotic) | Yes | No | ND | Negative | - | Negative | - | - |
| GS1176 | F | 3 | ND | Yes | No | ND | Negative | - | - | - | - |
| GS1178 | F | 11 | Yes | Yes | Yes | ND | Negative | - | - | - | - |
| GS1189 | M | 21 | Yes | No | Yes | Hydrocephaly | Negative | Positive pituitary *; Negative bone * | Negative | Sequence of bad quality (G:13× A:14×) * |
p.R201H |
| GS1224 | M | 29 | Yes | Yes | No | Nephrotic syndrome | - | Sample of bad quality (kidney *) |
- | Sequence of bad quality (kidney *) |
- |
| GS1228 | F | 3 | Yes (polyostotic) | Yes | ND | ND | Negative | Negative (skin) |
Negative |
Positive (1%) C:215× T:2× (skin) |
p.R201C |
| GS1240 | F | ND | ND | ND | ND | ND | - | Negative | - | Negative | - |
| GS1241 | F | 1 | Yes | ND | ND | ND | - | Negative (bone) |
- | Negative (bone) |
- |
| GS1255 | F | 10 | ND | Yes | Yes | Ovarian cyst | Negative | - | Negative | - | - |
| GS1258 | F | 0 | ND | ND | ND | Neonatal Cushing’s syndrome | Negative | Negative (skin) |
Negative | Negative (skin) |
- |
| GS1281 | M | ND | ND | ND | ND | ND | - | Negative (skin) | - | Positive (1%) C:177× T:2× (skin) |
p.R201C |
| GS1297 | M | 14 | Yes (polyostotic) | No | No | GH and prolactin hypersecretion | - | Negative (bone) |
- | Positive (27%) C:208× T:78× (bone) |
p.R201C |
| DX1180 | F | 6 | No | Yes | Yes | ND | Negative | - | Negative | - | - |
| GS1304 | F | 9 | Yes (monostotic) | No | Yes | ND | Negative | - | Negative | - | - |
| GS1311 | F | 9 | Yes | Yes | Yes | Ovarian cyst | Negative | - | Negative | - | - |
| GS1312 | F | 9 | ND | Yes | Yes | ND | Negative | - | Positive (1%) G:225× A:4× |
- | p.R201H |
| GS1313 | F | ND | ND | ND | ND | ND | - | Negative | - | Negative | - |
| GS1329 | F | 5 | ND | ND | Yes | ND | Negative | - | Negative | - | - |
| GS1333 | M | 68 | Yes (polyostotic) | ND | ND | ND | Negative | - | Negative | - | - |