Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in <i>PTEN</i> and <i>PPP2R5D</i> Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy.

ABSTRACT:

Background

Macrocephaly can be a component manifestation of several monogenic conditions, in association with intellectual disability/developmental delay (ID/DD) behaviour abnormalities, including autism spectrum disorders (ASD), and variable additional features. On the other hand, idiopathic ASD can present with developmental delay and macrocephaly.

Methods

We carried out a retrospective analysis of a cohort of 78 patients who were tested from February 2017 to December 2024 by high-throughput sequencing of a panel of 27 genes (ABCC9, AKT1, AKT2, AKT3, BRWD3, DIS3L2, DNMT3A, EZH2, GPC3, GPC4, HERC1, MED12, MTOR, NFIA, NFIX, NSD1, PDGFRB, PIK3CA, PI

SUBMITTER: L'Erario FF 

PROVIDER: S-EPMC12027116 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature