The phenotypic and genetic spectrum of AKT3-related neurodevelopmental condition.

ABSTRACT: This study was undertaken to expand the phenotypic and genetic spectrum of AKT3-related neurodevelopmental disorders and to investigate genotype-phenotype correlations. To date, more than 200 patients with AKT3-related disorders have been identified, including those with AKT3 single nucleotide variants and copy number variations affecting the AKT3 gene. Adding our three newly diagnosed patients, the total number of patients with AKT3 single nucleotide variant-related neurodevelopmental disorders is now 61. A total of 20 distinct AKT3 variants have been identified, with p.E17K and p.R465W being potential mutation "hotspots". Approximately 77% (47/61) of the patients experienced macrocephaly, and 81.9% (50/61) had megalencephaly. Seizures were present in 62.3% (38/61) of individuals, and 29.

SUBMITTER: Wang X 

PROVIDER: S-EPMC11876451 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature