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

From: 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

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]
[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 -
  1. NS; Not stated