Table 1
Clinical and molecular data of Opitz syndrome patients with a known MID1 mutation
| Main features | Our series familial (F) and sporadic (S) cases | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Family 1 | Family 2 | Family 6 | Total | ||||||||||
| (F) | (F) | Patient 3 | Patient 4 | (F) | Patient 9 | Total | Previous studies11 | % | |||||
| proband | brother | proband | brother | (F) | (F) | proband | brother | (S) | /9 | /28 | % | /37 | |
| *patients presenting with swallowing difficulties but no anatomical defects | |||||||||||||
| †vermis hypoplasia | |||||||||||||
| ‡inferior vermis agenesis | |||||||||||||
| §vermis and posterior corpus callosum hypoplasia | |||||||||||||
| Hypertelorism or telecantus | + | + | + | + | + | + | + | + | + | 9 | 28 | 100 | 100 |
| Hypospadias | + | – | + | + | + | + | + | + | + | 8 | 25 | 89 | 89 |
| Urogenital abnormalities | + | + | + | ||||||||||
| Oesophagolaryngotracheal anomalies | + | +* | + | + | + | + | +* | +* | +* | 9 | 21 | 75 | 78 |
| Cleft lip or palate | – | – | + | + | – | – | + | – | – | 3 | 15 | 54 | 49 |
| Ear abnormalities | + | + | + | + | – | + | + | ? | + | 7 | 11 | 39 | 48 |
| Anteverted nostrils | – | – | + | – | + | + | + | + | – | 5 | 11 | 39 | 43 |
| Heart defects | – | – | – | – | + | – | – | + | – | 2 | 9 | 32 | 30 |
| Anal abnormalities | – | – | – | – | – | + | + | – | – | 2 | 8 | 28 | 27 |
| Brain anomalies | – | – | +† | ? | – | +‡ | +† | +§ | ? | 4 | 6 | 21 | 27 |
| Developmental delay | – | – | + | + | + | – | + | + | – | 5 | 14 | 50 | 51 |
| MID1 mutation | G452S | R277X | a.1285+2 delGAGT | 1447–1448 insAACA | R495X | 403–411 del | |||||||
