The identified chromosomal regions have been previously associated with several neurological and other disorders. Chr5: 69,916,523-70,373,564 covers several genes, including SMA4, SERF1, SERF1B, SMN2, SMA3, NAIP, GTF2H2, GTF2H2D and the downstream OCLN. Among them, SMA3, SMA4 and SMN2 are known to be associated spinal muscular atrophy (Also-Rallo et al., 2011; Wong et al., 2007). Recent research shows that the genes in this region have a function in the nervous system (Dachs et al., 2011), including OCLN, another candidate in this region, which is an integral membrane protein that is required for cytokine-induced regulation of the tight junction paracellular permeability barrier. Mutations in this gene are thought to be a cause of pseudo-TORCH syndrome, an autosomal recessive neurologic disorder that mimics the clinical characteristics (e.g. microcephaly, seizures, spasticity) attributable to congenital infections due to Toxoplasmosis, Other Agents, Rubella, Cytomegalovirus or Herpes Simplex (O’Driscoll et al., 2010). While the CNV in Chr6:79,034,386-79,090,197 is located in a gene desert, there is evidence that suggests a link between chromosome region 6q14.1 and mild mental retardation, language delay, and minor dysmorphisms (Lespinasse et al., 2009;
