De novo variant in the ATP2B2 gene as a cause of neuropsychiatric developmental disorder

The ATP2B2 is associated with the development of hereditary conditions, including ataxia, dystonia, and intellectual disabilities. Recent research has established a connection between the ATP2B2 gene and a newly identified disorder characterized by delays in mental, speech, and motor development. This article presents a case study involving a patient diagnosed with autism spectrum disorder and intellectual disability, who possesses a previously unreported heterozygous variant in the ATP2B2 gene. This variant results in the loss of the stop codon, potentially leading to an elongation of the protein chain (c.3732G>C/p.Ter1244TyrextTer137, NM_001001331.2). The findings also provide additional data on the phenotype associated with this novel ATP2B2-related neurodevelopmental disorder, thereby enriching the understanding of this rare condition.