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,^14,¹⁵	BP in ZFHX1B IVS2 ^4,¹⁵	Del²	Del¹	Del^3,^5,¹⁶	Del ⁸	Pat 1	Pat 2	Pat 3	Pat 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.
Gender	16 M, 6F	1 M	1 M	1 M	1 F	1 M, 3 F	F	M	M	M
Sporadic occurrence	22	+	+	+	+	+	+	+	+	+
Birth length (centile)	5 × >90th	50th	?	50th	?	?	?	10th	5th	90th
	4 × >50th
	4 × >10th
	1 × rd3
Birth weight (centile)	4 × >90th	90th	90th	50th	50th	?	50th	90th	60th	90th
	9 × 50th
	4 × >10th
OFC at birth (centile)	4 × >25th	50th	<3rd	25th	<3rd	?	<3rd	3rd	20th	?
	4 × 10th–25th
	8 × <3rd
Age at last investigation	13 mth-23 y	6 y	2y 6 mth	3 y	6 y	?	10 y	8 y 7mth	5 wks	13 y
Length (centile)	1 × 75th	<<3rd	3rd–10th	50th	<3rd	?	<10th	3rd	50th	?
	2 × 10th–25th
	9 × <3rd
Weight (centile)	4 × <3rd	<3rd	10th	<3rd	<3rd	?	3rd	10th	50th	?
	5 × 3rd–10th
	3 × <3rd
OFC (centile)	3 × 10th–50th	<3rd	<<3rd	3rd	<<3rd	?	<3rd	<3rd	3rd	40th
	9 × <3rd
Microcephaly	18	+	+	+	+	4	+	+	+	-
Severe mental retardation	22	+	+	+	+	4	+	+	+	+
Walking at age	2–8 y	6 y	-	-	-	?	6 y	9 y	-	2½12 y
	Average 4–5 y
Personality	Predominantly happy	?	?	Happy	?	Happy	Affectionate, happy	Happy	N/A	Affectionate, happy
Seizures	16	Febrile	Neonatal	2 y	11 mth	In 4	7 y	Childhood	Neonatal	4 y
Hypotonia	7	+	?	?	?	?	-	+	+	?
							Spasticity in lower limbs
Pes planus with calcaneovalgus	6	+	?	+	?	?	-	+	Hypoplasia of big toes	Walks on tiptoes
Agenesis of corpus callosum	5	+	?	+	-	3	-	+	-	+
					Cerebral atrophy		MRI normal	Colpocephaly
Hirschsprung disease	13	+	+	+	+ SS	4 2SS, 1LS	-	-	+	+
Constipation	5						+	-
Congenital heart disease	7	-	Ast, PDA, VSD, ASD	-	PDA	4	ASD	-	PFO, PS	VSD, PS
Renal anomalies	4	-	-	Duplex kidney	-	0	-	-	-	-
Hypospadias	3	+	-	+	?	1		+	Micro-phallus	+
Cryptorchidism	6		-		?			+	+	-
Cleft palate/lip	1 submucous	-	-	-	-	0	-	-	-	-
Ptosis	0	-	-	-	-	0	-	-	-	-
Iris coloboma	0	-	-	-	-	0	-	-	-	-
Strabismus	9	+	-	+	+	3?	-	+	?	+
Hypertelorism	20	+	-	+	+	2 of 2	+	+	+	+
Facial gestalt	All MWS	MWS	MWS	MWS	MWS	MWS	MWS	MWS	MWS	MWS
Deletion or translocation of 2q22		t (2;11) (q22.2;2q21)	del (2)(q22q23)	del (2) (q21q23)	5 Mb	Size?	5 Mb	700 kb	11 Mb	300 kb
ZFHX1B mutation (truncating)	1 × exon 3
	1 × exon 5
	1 × exon 7
	1 × exon 10
	2 × exon 6
	16 × exon 8