CNTN3 encodes Contactin 3, a member of the immunoglobulin/fibronectin superfamily of adhesion molecules. This protein mediates cell surface interactions and is believed to play a role in nervous system development. The exact function of CNTN3 is yet to be fully characterized. However, its paralogs contactin 1 and contactin 2 are known to be involved in neural cell migration, axon guidance and myelin subdomain organization.
The CNTN3 gene, located on the short arm of chromosome 3, spans a length of 351.8 kb of DNA. Its coding sequence is spread across 27 exons and it encodes a 112.8 kDa protein product consisting of 1028 amino acids. The gene is mainly expressed in the cerebellum, amygdala, frontal lobe and occipital lobe of the brain.
Monies et al. (2017) studied the findings of 1000 diagnostic panels and exomes carried out at a next generation sequencing lab in Saudi Arabia. One patient, a 12-year-old female, presented with microcephaly, intellectual disability, learning disability, severe ADHD and mild motor delay. Her parents were consanguineous and she had a family history of the phenotype. WES carried out on the patient and both parents helped identify a homozygous mutation (c.2309C>T, p.P770L) in exon 17 of the patient’s CNTN3 gene. This gene mutation was considered a candidate for pathogenicity due to several reasons: it was a novel variant and was predicted to be deleterious; and the mouse orthologue of the gene is seen to be expressed in the mouse subventricular zone proliferative cells, which is consistent with a potential role in the primary microcephaly phenotype. The authors noted that further studies are required to independently confirm this association.
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