The CLSTN2 gene encodes Calsyntenin 2, an integral membrane protein that consists of an N-terminal signal sequence, 2 cadherin repeats, a C-terminal transmembrane domain and a cytoplasmic C-terminus. While the exact function of calsyntenin 2 is yet to be fully characterized, it is known to be a calcium-ion binding protein that plays a role in synaptic transmission and synapse assembly. It is also suggested to be involved in homophilic cell adhesion via plasma membrane adhesion molecules.
The CLSTN2 gene, located on the long arm of chromosome 3, spans a length of 642.2 kb of DNA. Its coding sequence is spread across 18 exons and it encodes a 107 kDa protein product consisting of 955 amino acids. The gene is expressed exclusively in 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 9-year-old female, presented with intellectual disability, autism spectrum disorder and ADHD. Her parents were consanguineous and she had a family history of this phenotype. Using whole exome sequencing, a homozygous mutation (c.2296C>T, p.R766C) was identified in exon 14 of the patient’s CLSTN2 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 had been implicated in cognition. The authors noted that further studies are required to independently confirm this association.
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