Jun 2026· Zhurnal Nevrologii i Psikhiatrii imeni S.S. Korsakova· Vol 126 6, pp.
104-107
· 0 citations· 11 references
Medicine
TL;DR
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, which results in the loss of the stop codon potentially leading to an elongation of the protein chain.
Abstract
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.
The findings support the pathogenicity of this variant and further expand the pathogenic variant spectrum of the PPP2CA gene, and the observed genotype–phenotype correlation provides valuable information for prognosis and genetic counseling.
Lei Xu, Yanfeng Shen, Guixiang Zhang· Frontiers in Psychiatry· 0 citations
A novel deletion variant in a Wilson disease patient harboring compound heterozygous variants in ATP7B is identified, expanding the known spectrum of pathogenic ATP7B variants.
Lipeng Yang, Jun Li, Si Xie et al.· Frontiers in Neurology· 0 citations
Neurodevelopmental disorders encompass a large group of conditions, many of which can be explained by genetic variants. KIRREL3 has previously been associated with neurodevelopmental disorders and is expressed in the developing human basal ganglia and amygdala. Through GeneMatcher, which allows clinicians, families, and researchers to share information about novel gene variants, and the Simons Foundation Powering Autism Research (SPARK) project, we identified 26 individuals with different rare missense variants in KIRREL3, which were predicted to be damaging based on their REVEL score. All probands had neurodevelopmental diagnoses including autism spectrum disorder, global developmental delay, intellectual disability, or a learning disability. A full review of previous publications identified 10 rare KIRREL3 missense variants in 13 individuals who had at least one diagnosis of an autism spectrum disorder or intellectual disability. These findings highlight the potential role of KIRREL3 missense variants in neurodevelopmental disorders, which warrants further study.
Priyanka R Narayan, Sabah Sabir, Divya Jayvas et al.· American Journal of Medical...· 0 citations
This variant is the first reported, enriching the database and providing additional evidence to support genetic counselling and prenatal diagnosis, and is the first reported to lead to exon 2 skipping of GRIA3.
Lina Hu, Yuqiong Chai, Xiaofei Liu et al.· Frontiers in Genetics· 0 citations
This study may expand the mutation and phenotypic spectrum of SETD1A-related disorders, establishing the relationship between SETD1A variants and isolated early-onset epilepsy without accompanying severe neurodevelopmental deficits, and highlighting the value of genetic testing in infants with unexplained epilepsy.
Rina Su, Lei Zhu, Lin Jiang et al.· Frontiers in Neuroscience· 0 citations
This study contributes additional cases to the expanding phenotypic and mutational spectrum of ZNF292-related neurodevelopmental disorder and indicates growth retardation was observed in all eight individuals, but given the limitations of a single-center referral cohort, this observation should be interpreted with caution and requires validation in larger studies.
Yaping Shen, Rongrong Pan, Chen Liu et al.· Genes· 0 citations
