The CNTN5 gene encodes contactin 5, a member of the immunoglobulin/fibronectin superfamily of adhesion molecules. CNTN5 is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein and like other contactins, it mediates cell surface interactions during nervous system development. While the exact function of CNTN5 is yet to be fully characterized, 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 long arm of chromosome 11, spans a length of 1337.9 kb of DNA. Its coding sequence is spread across 27 exons and it encodes a 120.6 kDa protein product consisting of 1100 amino acids. The gene is mainly expressed in the cerebellum, amygdala, thalamus, frontal lobe, temporal lobe and occipital lobe of the brain.
Monies et al. (2017) discussed the findings of 1000 diagnostic panels and exomes carried out at a next generation sequencing lab in Saudi Arabia. One patient, a 4-year-old female from a consanguineous family, presented with fine motor delay, speech delay, intellectual disability, learning disability, developmental regression, hypertonia, tonic seizures, spasticity and cerebellar atrophy. Using whole exome sequencing, a heterozygous mutation (c.1955T>G, p.I652R) was identified in exon 15 of the patient’s CNTN5 gene. This gene mutation was considered a candidate for pathogenicity as it was a novel variant that was predicted to be deleterious, and the gene was suggested to play a role in neuronal development. The authors noted that further studies are required to independently confirm this association.
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