Clinical features and ZFHX1B mutations in patients with Mowat-Wilson syndrome
| Patients (sex, age) | Nucleotide change (exon) | Amino acid change | HSCR | MR | EP | Microcephaly | Face | Walking age | Heart disease | Brain abnormality (CT/MRI findings) | Others | Refs. |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| *Showed repeated vomiting attacks in addition to epileptic convulsions; †showed repeated vomiting attacks only. | ||||||||||||
| (+), Presence of clinical signs; (−), absence of clinical signs; (c), shows constipation. | ||||||||||||
| ACC, agenesis of corpus callosum; ASD, atrial septal defect; EP, epilepsy; HCC, hypoplasia of corpus callosum; HPS, hypertrophic pyloric stenosis; HSCR, Hirschsprung disease; MR, mental retardation; NE, not examined; PAS, pulmonary artery sling; PDA, patent ductus arteriosus; PS, pulmonary stenosis; VM, ventriculomegaly; VSD, ventricular septal defect; WNL, within normal limits. | ||||||||||||
| S2 (F, 20 years) | 1645A>T (8) | R549X | + | ++ | − | + | + | 3 years and 6 months | PDA | ACC | Exotropia | 11, 14, 17 |
| S4 (M, 25 years) | 2083C>T (8) | R695X | + | ++ | +* | + | + | 8 years | − | NE | HPS | 11, 14, 17 |
| S5 (M, 25 years) | 1173del4 (8) | 392fs394X | + | ++ | + | + | + | 5 years and 3 months | PDA | WNL | 11, 14, 17 | |
| S6 (M, 28 years) | 2083C>T (8) | R695X | c | ++ | + | + | + | 8 years | − | VM (mild) | Exotropia | 14 |
| S7 (M, 30 years) | 2083C>T (8) | R695X | c | ++ | + | + | + | 4 years | VSD | WNL | Cryptorchism, esotropia | 14 |
| S8 (M, 26 years) | 2083C>T (8) | R695X | c | ++ | + | + | + | 2 years and 6 months | − | WNL | 14 | |
| S9 (M, 27 years) | 760insCA (6) | 254fs262X | − | ++ | + | + | + | 2 years | − | WNL | 14 | |
| S10 (F, 6 years) | 272delG (3) | 91fs107X | − | ++ | − | + | + | 4 years and 8 months | − | HCC (moderate), cortical atrophy, VM (moderate) | 14 | |
| S11 (M, 3 years) | 2178del2 (8) | 727fs754X | c | ++ | + | + | + | 3 years and 3 months | − | HCC (moderate) | Exotropia | 14 |
| S14 (M, 4 years) | 1027C>T (8) | R343X | + | ++ | − | + | + | − | ASD, PS | NE | Hypospadias | |
| S15 (M, 5 years) | 1169ins382 (8) | 390fs430X | − | ++ | +† | + | + | − | − | HCC (mild) | ||
| S18 (F, 44 years) | 296del3 (3) | N99del | − | + | − | − | − | 1 year and 2 months | − | WNL | 22 | |
| S21 (M, 6 years) | 2083C>T (8) | R695X | + | ++ | + | + | + | − | PDA | NE | Hypospadias | |
| S24 (F, 11 years) | 1395del14ins19 (8) | 465fs467X | + | ++ | + | + | + | 3 years | PDA | WNL | ||
| S28 (M, 10 years) | 857delAG (7) | 286fs293X | c | ++ | + | + | + | 6 years | PAS, PDA | ACC | Cryptorchism, stenosis of trachea | |
| S31 (M, 7 years) | 904C>T (7) | R302X | + | ++ | +* | + | + | 5 years and 2 months | − | Cavum septi pellucidi | Cryptorchism | |
| S32 (M, 2 years) | 2083C>T (8) | R695X | + | ++ | + | − | + | − | PDA, VSD | HCC (mild), cortical atrophy, VM (mild) | Cryptorchism, HPS, hypospadias | |
| S34 (M, 28 years) | 1489C>T (8) | Q497X | − | ++ | + | − | + | 2 years | − | NE | ||
| S38 (F, 3 years) | 2083C>T (8) | R695X | + | ++ | +* | + | + | − | PDA | WNL | Septum of vagina, HPS, exotropia | |