Background: ASXL2 encodes proteins involved in epigenetic regulation and the assembly of transcription factors at specific genomic loci. Germline de novo truncating variants in ASXL2 have been implicated in Shashi‐Pena syndrome, which results in features of developmental delay (DD), glabellar nevus flammeus, hypotonia, and cardiac disorders. However, the variants are rare, and the clinical spectrum may be incomplete.Methods: The clinical data such as brain MRI were collect. The whole exome sequencing was performed for genetic etiology analysis.Results: Here, we report a patient with DD, hypotonia, early atrial septal defect, and abnormal white matter signal. She presented with Shashi–Pena syndrome with a truncated variant in ASXL2 (NM_018263.6, c.2142_2152del, p.Ser714Argfs*5). She died of a digestive tract infection when she was 1 year and 6 months old.Conclusions: Our study further expanded the spectrum of phenotypes and genetic variations of the syndrome, and we believe that it is necessary to screen the ASXL2 gene in patients with DD and cardiac and bone disorders.

Purpose. Epilepsy is a common chronic neurological disorder. We aim to investigate the underlying mechanism of epilepsy with partial least squares- (PLS-) based gene expression analysis, which is more sensitive than routine variance/regression analysis.Methods. Two microarray data sets were downloaded from the Gene Expression Omnibus (GEO) database. PLS analysis was used to identify differentially expressed genes. Gene ontology and network analysis were also implemented.Results. A total of 752 genes were identified to be differentially expressed, including 575 depressed and 177 overexpressed genes in patients. For GO enrichment analysis, except for processes related to the nervous system, we also identified overrepresentation of dysregulated genes in angiogenesis. Network analysis revealed two hub genes,CUL3andEP300, which may serve as potential targets in further therapeutic studies.Conclusion. Our results here may provide new understanding for the underlying mechanisms of epilepsy pathogenesis and will offer potential targets for producing new treatments.

Background: PGM2L1 gene variants are associated with developmental delays, seizures, and various neurological and physical symptoms. This study aims to report the clinical features and genetic findings in a male patient with developmental delay, regression, and seizures. Methods: Whole‐exome sequencing (WES) was performed on the patient to identify the genetic etiology of the patient. Sanger sequencing was used for variant confirmation. Clinical evaluations were conducted, including cerebrospinal fluid analysis, cranial MRI, EEG, and neurological assessments. Results: The patient is a 1‐year‐old male who presented with psychomotor delays and developed seizures and impaired consciousness at 1 year of age. Cranial MRI revealed bilateral frontotemporal subarachnoid widening. Developmental regression was observed shortly after the onset of seizures. The EEG results showed diffuse slow background activity and epileptiform discharges. WES identified a rare homozygous variant in the PGM2L1 gene (OMIM: 611,610, NM_173582.6: c.1673delC, p.Thr558Ilefs*19), which was inherited from both parents. Sanger sequencing confirmed the presence of the variant, and it was evaluated as a likely pathogenic variant according to American College of Medical Genetics and Genomics (ACMG) guidelines. Conclusion: Our study was the second report of a PGM2L1 gene variant associated with early‐onset developmental delay and seizures, further expanding the genetic spectrum of this disorder.