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Background: CaBP4 encodes Ca 2+ -binding protein 4, a neuronal Ca 2+ -binding protein that participates in many cellular processes by regulating the concentration of free Ca 2+ ions. De novo CaBP4 variants have been identified as a cause of congenital stationary night blindness (CSNB). However, we recently reported a 4-generation pedigree with 11 individuals diagnosed with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) that were validated with only one novel missense mutation, c.464G>A (p.G155D), in CaBP4. De novo CaBP4 variants have never been reported to be related with ADNFLE. This study aimed to identify whether c.464G>A (p.G155D) in CaBP4 reduced the expression of CaBP4.
Methods:In vitro experiments using recombinant protein expressed in human neuron cells were utilized in this study. Real-time polymerase chain reaction (RT-PCR) was performed to evaluate the effect of c.464G>A on CaBP4 mRNA expression. Western blot was performed to assess the effect of c.464G>A on CaBP4 protein expression.Results: According to the RT-PCR and Western blot results, c.464G>A (p.G155D) was associated with an increased expression of CaBP4 mRNA and a reduced expression of CaBP4 protein.Conclusions: These results reveal that c.464G>A (p.G155D) in CaBP4 reduced the expression of CaBP4 by reducing the stability of the CaBP4 protein. Mutations in the CaBP4 gene may be associated with ADNFLE.
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