Table 3. Clinical characteristics of the patients with MMIHS due to ACTG2 de novo mutations.
| Subject | Fam4-1 | Fam12-1 | Fam14-1 | Fam16-1 | Fam25-1 | Fam26-1 | Fam28-1 | Fam29-1 | Fam30-1 | Fam35-1 |
| ACTG2 Mutation | p.R257C | p.R40H | p.M45T | p.Y133N | p.R257C | p.R40C | p.G198D | p.R178C | p.R257C | p.R178H |
| Gender | M | M | F | M | M | F | F | M | F | F |
| Age in years | 11 | 16 | 18 | 25 | 13 | 16 | 3 | 3 | 1 | 6 |
| Paternal age at birth | 28 | 37 | 39 | 28 | 44 | 36 | 32 | 26 | 24 | 32 |
| Maternal age at birth | 31 | 33 | 35 | 26 | 36 | 33 | 31 | 32 | 26 | 28 |
| Megacystis | − | + | − | + | + | + | − | + | + | + |
| Fetal bladder diversion | − | + | − | + | − | − | − | + | − | − |
| Neonatal bilious emesis | + | − | + | − | + | − | + | + | + | + |
| Abdominal surgery/malrotation | + | − | + | + | + | − | + | + | + | + |
| Microcolon | − | − | + | − | + | + | − | + | − | + |
| Lifetime TPN dependence | + | − | − | − | + | + | + | + | + | + |
| Lifetime bladder catheterization | + | + | − | + | − | + | + | + | + | + |
| Motility treatment*(response) | M (−) Cis(−) | Cis (+) | Cis (+) | Cis (+) | Cis (−) | M (−)E (−) | ||||
| Other medical conditions | Non-febrile seizures age 3 y | ADHD since age 6 y | Asthma, pectus excavatum, prune belly. cardio-myopathy | ADHD | Undescended testicle |
+ Feature present, − Feature absent,
*M- Metaclopramide, Cis- Cisapride, E-Erythromycin, (+) responsive, (−) non-responsive.