Table 1

Phenotype of previously published patients with Mowat-Wilson syndrome and mutation, deletion, or translocation breakpoint in the ZFHX1B gene and of the present patients

MWS patients with mutations (n=22)] 1,3–6,8,14,15BP in ZFHX1B IVS2 4,15Del2Del1Del3,5,16Del 8Pat 1Pat 2Pat 3Pat 4
BP: breakpoint; IVS2: intron 2 ; colpocephaly: enlargement of the occipital horns of the ventricular system owing to an underdevelopment of the white matter in the posterior cerebrum17; Ast: aortic stenosis; ASD: atrial septal defect; PDA: persistent ductus arteriosus; VSD: ventricular septal defect; PFO: persistent foramen ovale; PS: pulmonary stenosis; SS: short segment HSCR; LS: long segment HSCR; VUR: vesicoureteric reflux. In deletion patients age of onset of seizures is given.
Gender16 M, 6F1 M1 M1 M1 F1 M, 3 FFMMM
Sporadic occurrence22+++++++++
Birth length (centile)5 × >90th50th?50th???10th5th90th
4 × >50th
4 × >10th
1 × rd3
Birth weight (centile)4 × >90th90th90th50th50th?50th90th60th90th
9 × 50th
4 × >10th
OFC at birth (centile)4 × >25th50th<3rd25th<3rd?<3rd3rd20th?
4 × 10th–25th
8 × <3rd
Age at last investigation13 mth-23 y6 y2y 6 mth3 y6 y?10 y8 y 7mth5 wks13 y
Length (centile)1 × 75th<<3rd3rd–10th50th<3rd?<10th3rd50th?
2 × 10th–25th
9 × <3rd
Weight (centile)4 × <3rd<3rd10th<3rd<3rd?3rd10th50th?
5 × 3rd–10th
3 × <3rd
OFC (centile)3 × 10th–50th<3rd<<3rd3rd<<3rd?<3rd<3rd3rd40th
9 × <3rd
Severe mental retardation22++++4++++
Walking at age2–8 y6 y---?6 y9 y-2½12 y
Average 4–5 y
PersonalityPredominantly happy??Happy?HappyAffectionate, happyHappyN/AAffectionate, happy
Seizures16FebrileNeonatal2 y11 mthIn 47 yChildhoodNeonatal4 y
Spasticity in lower limbs
Pes planus with calcaneovalgus6+?+??-+Hypoplasia of big toesWalks on tiptoes
Agenesis of corpus callosum5+?+-3-+-+
Cerebral atrophyMRI normalColpocephaly
Hirschsprung disease13++++ SS4 2SS, 1LS--++
Congenital heart disease7-Ast, PDA, VSD, ASD-PDA4ASD-PFO, PSVSD, PS
Renal anomalies4--Duplex kidney-0----
Cleft palate/lip1 submucous----0----
Iris coloboma0----0----
Hypertelorism20+-++2 of 2++++
Deletion or translocation of 2q22t (2;11) (q22.2;2q21)del (2)(q22q23)del (2) (q21q23)5 MbSize?5 Mb700 kb11 Mb300 kb
ZFHX1B mutation (truncating)1 × exon 3
1 × exon 5
1 × exon 7
1 × exon 10
2 × exon 6
16 × exon 8