Table 1

Clinical features and ZFHX1B mutations in patients with Mowat-Wilson syndrome

Patients (sex, age)Nucleotide change (exon)Amino acid changeHSCRMREPMicrocephalyFaceWalking ageHeart diseaseBrain abnormality (CT/MRI findings)OthersRefs.
*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 monthsPDAACCExotropia11, 14, 17
S4 (M, 25 years)2083C>T (8)R695X++++*++8 yearsNEHPS11, 14, 17
S5 (M, 25 years)1173del4 (8)392fs394X++++++5 years and 3 monthsPDAWNL11, 14, 17
S6 (M, 28 years)2083C>T (8)R695Xc+++++8 yearsVM (mild)Exotropia 14
S7 (M, 30 years)2083C>T (8)R695Xc+++++4 yearsVSDWNLCryptorchism, esotropia 14
S8 (M, 26 years)2083C>T (8)R695Xc+++++2 years and 6 monthsWNL 14
S9 (M, 27 years)760insCA (6)254fs262X+++++2 yearsWNL 14
S10 (F, 6 years)272delG (3)91fs107X++++4 years and 8 monthsHCC (moderate), cortical atrophy, VM (moderate) 14
S11 (M, 3 years)2178del2 (8)727fs754Xc+++++3 years and 3 monthsHCC (moderate)Exotropia 14
S14 (M, 4 years)1027C>T (8)R343X+++++ASD, PSNEHypospadias
S15 (M, 5 years)1169ins382 (8)390fs430X+++†++HCC (mild)
S18 (F, 44 years)296del3 (3)N99del+1 year and 2 monthsWNL 22
S21 (M, 6 years)2083C>T (8)R695X++++++PDANEHypospadias
S24 (F, 11 years)1395del14ins19 (8)465fs467X++++++3 yearsPDAWNL
S28 (M, 10 years)857delAG (7)286fs293Xc+++++6 yearsPAS, PDAACCCryptorchism, stenosis of trachea
S31 (M, 7 years)904C>T (7)R302X++++*++5 years and 2 monthsCavum septi pellucidiCryptorchism
S32 (M, 2 years)2083C>T (8)R695X+++++PDA, VSDHCC (mild), cortical atrophy, VM (mild)Cryptorchism, HPS, hypospadias
S34 (M, 28 years)1489C>T (8)Q497X++++2 yearsNE
S38 (F, 3 years)2083C>T (8)R695X++++*++PDAWNLSeptum of vagina, HPS, exotropia