A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency

BMC Medical Genetics

Table 1 Clinical features of patients with AP4M1 mutations in this and previous studies

Parameters	Present study		Verkerk et al. [ [16]]	Tüysüz et al. [ [15]]
Parameters	Ind IV:3	Ind IV:4	Verkerk et al. [ [16]]	Tüysüz et al. [ [15]]
Gender	M	M	3F/2M	3F/1M
Age at last examination (y.)	14	12	1.5/21/22/23/24	2.5/10.5/11/17
Head circumference	−2SD	−2SD	−1 to −2.5 SD	−2 to −4 SD
Height (cm)	157	137	NA	NA
Intellectual disability	Severe	Severe	Severe in 5/5	Severe in 3/4
Seizures	+	-	-	+
Shy character	-	-	+	+
Aggressive behavior	+	+	-	-
Stereotype laughter	-	-	+	+
Severe speech disorder	+	+	+	+
Infantile hypotonia	+	+	+	+
Hypertonia	+	+	+	+
Hyperreflexia	+	+	NA	NA
Babinski sign	+	+	+	NA
Spasticity	+	+	+	+
Club feet	-	-	+	+
Independent walking (y.)	2	4	-	+/−
Ambulation	-	-	-	-
Craniofacial features
Facial hypotonia	-	-	NA	+
Bitemporal narrowing	-	-	NA	+
Broad nasal bridge	-	-	NA	+
Bulbous nose	-	+	NA	+
Short philtrum	+	+	NA	+
Brain MR imaging	Yes	No	3/5	4/4
Widened lateral ventricles	+		+	+
Thin splenium of the CC	+		+	+
Cerebellar hypoplasia/atrophy	+		2/3	-

Abbreviations: + present, − absent, SD standard deviation, M male, F female, NA: no data available, CC: corpus callosum, y.: years.

ISSN: 1471-2350