The CTNNA2 gene encodes Catenin Alpha-2, a protein involved in cell-cell and cell-matrix adhesion by anchoring cadherin adhesion receptors to the cytoskeleton. While the protein is yet to be fully characterized, studies of its mouse ortholog gene have helped elucidate its function in the nervous system. CTNNA2 is hence believed to play a role in axonogenesis, dendrite morphogenesis, prepulse inhibition and the regulation of synapse structural plasticity.
The CTNNA2 gene is located on the short arm of chromosome 2. It spans a length of 1463.6 kb of DNA and its coding sequence is contained within 27 exons. The gene encodes a 105.3 kDa protein product composed of 953 amino acids. Several additional isoforms of the CTNNA2 protein are encoded by alternatively spliced transcript variants. Overexpression of CTNNA2 is seen in the adult and fetal brain, as well as the retina.
Monies et al. (2017) investigated the findings of 1000 diagnostic panels and exomes carried out at a next generation sequencing lab in Saudi Arabia. One patient, a 2-year-old female, presented with microcephaly, gross motor delay, speech delay, intellectual disability, learning disability, developmental regression, neuroregression and autistic features. Using whole exome sequencing, a heterozygous mutation (c.299G>C, p.G100A) was identified in exon 4 of the patient’s CTNNA2 gene. This gene mutation was considered a candidate for pathogenicity since it was a novel variant that was predicted to be deleterious. Furthermore, based on mouse models, the gene was suggested to play a role in the brain. Further studies are needed to independently confirm this association.
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