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 4 Functions of candidate genes possibly contributing to clinical phenotypes observed in patient DGDP005

Gene name	Gene symbol	Age	Association with neuro-developmental features	Remarks
Nuclear factor I/A	NFIA	[16] ~2 yrs	Abnormal corpus callosum, ventriculomegaly, hydrocephalus, developmental delay, tethered spinal cord, chiari I malformation, and urinary track defect	Disruption of Nfia in mice result in severe developmental defects including agenesis of the corpus callosum, severe communicating hydrocephalus, neurological defects, male sterility, female subfertility [24]
Nuclear factor I/A	NFIA	[21] 8 yrs
Dab, reelin signal transducer homolog 1	DAB1	[37] ~7.5 yrs	Autism
Hook homolog 1(Drosophila)	HOOK1	[23] 5 yrs	Cognitive impairment (DCP300407)	Cytosolic protein possessing a conserved N-terminal domain that binds to microtubules. Interacts with CLN3, the causative gene for autosomal recessive Batten disease.
Dedicator of cytokinesis 7	DOCK7	[38] 5–7 yrs	Epileptic encephalopathy, dysmorphic features and intellectual disability	DOCK7 plays a role in neural development
DnaJ (Hsp40) homolog, C, member 6	DNAJC6	[31] 17–44 yrs	Parkinson disease Subfamily	-
Phosphodiesterase 4B, cAMP-specific	PDE4B	[35] NS	Schizophrenia	-

ISSN: 1755-8166