Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability

Table 3 Clinical features of DGDP005 along with five additional microdeletion cases and a balanced translocation t(1;20)(p31.3;q13.31)dn disrupting the NFIA gene

Clinical features	DGDP005 del(1)p31.3 p32.2	Koehler et al. 2010 del(1)p31.3 p32.2	Campbell et al. 2002 DGAP205-1 & DGAP205-1S del(1)p31.3 p32.3	Ji et al.2014 del(1)p31.1 p32.2	Rao et. al 2014 del(1) p31.3	Lu et al., 2007 DGAP174^adel(1)(p31.3 p32.1)	Lu et al., 2007 DGAP104 Balanced translocation t(1;20) (p31.3;q13.31)dn
Developmental delay	+	+	+	+	+	+	+
Intellectual disability	+	NS	+	NS	NS	+	+
Macrocephaly	+	+	+	+	+	+	+
Frontal bossing	+	-	+	NS	NS	NS	NS
Developmental encephalopathy	+	-	-	-	-	-	-
OHT	+	-	-	-	-	-	-
Intraventricular hemorrhage	+	-	+	+	-	-	-
Impaired motor skills	+	NS	+	NS	NS	+	+
Attention deficit disorder	+	NS	-	NS	NS	+	+
Hypertonia	+	NS	NS	NS	NS	-	NS
OCD	+	-	+	-	NS	-	-
Seizures	-	-	+	+	-	NS	NS
Abnormal corpus callosum	NS	+	+	+	+	+	+
Ventriculomegaly	-	+	+	+	+	+	-
Tethered spinal cords	-	-	+	-	-	+	+
Chiari I malformation	-	NS	+	-	-	+	+
Urinary tract defects	-	-	+	+	+	NS	-

NS: Not Stated; Pt: Patient
^aDGAP174 also has an additional chromosome translocation, 46,XY, t(1:3)(p31.1;q25.1)dn

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