biostudies-literatureUnknown8Yeung KSHKU Seed Funding for Basic ResearchSK Yee Medical Research FundThe Society for the Relief of Disabled Children<h4>Background</h4>Macrocephaly, which is defined as a head circumference greater than or equal to + 2 standard deviations, is a feature commonly observed in children with developmental delay and/or autism spectrum disorder. Although <i>PTEN</i> is a well-known gene identified in patients with this syndromic presentation, other genes in the PI3K-AKT-mTOR signalling pathway have also recently been suggested to have important roles. The aim of this study is to characterise the mutation spectrum of this group of patients.<h4>Methods</h4>We performed whole-exome sequencing of 21 patients with macrocephaly and developmental delay/autism spectrum disorder. Sources of genomic DNA included blood, buccal mucosa and saliva. Germline mutations were validated by Sanger sequencing, whereas somatic mutaMolecular autism66https://www.ebi.ac.uk/biostudies/studies/S-EPMC5738835biostudies-literatureIdentification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.PMC5738835Tsang MHYYang WLee SLYeung KSLeung GKCChung BHYing DIp JJKMak CCYTso WWYPei SLCfalseIdentification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.<h4>Background</h4>Macrocephaly, which is defined as a head circumference greater than or equal to + 2 standard deviations, is a feature commonly observed in children with developmental delay and/or autism spectrum disorder. Although <i>PTEN</i> is a well-known gene identified in patients with this syndromic presentation, other genes in the PI3K-AKT-mTOR signalling pathway have also recently been suggested to have important roles. The aim of this study is to characterise the mutation spectrum of this group of patients.<h4>Methods</h4>We performed whole-exome sequencing of 21 patients with macrocephaly and developmental delay/autism spectrum disorder. Sources of genomic DNA included blood, buccal mucosa and saliva. Germline mutations were validated by Sanger sequencing, whereas somatic muta2017-01-01T00:00:00Z20172025-04-05T12:33:17.167Z2019-03-27T03:05:27ZS-EPMC57388352929627710.1186/s13229-017-0182-4