{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["8"],"submitter":["Yeung KS"],"funding":["HKU Seed Funding for Basic Research","SK Yee Medical Research Fund","The Society for the Relief of Disabled Children"],"pubmed_abstract":["<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 muta"],"journal":["Molecular autism"],"pagination":["66"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5738835"],"repository":["biostudies-literature"],"pubmed_title":["Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism."],"pmcid":["PMC5738835"],"pubmed_authors":["Tsang MHY","Yang W","Lee SL","Yeung KS","Leung GKC","Chung BH","Ying D","Ip JJK","Mak CCY","Tso WWY","Pei SLC"],"additional_accession":[]},"is_claimable":false,"name":"Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.","description":"<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 muta","dates":{"release":"2017-01-01T00:00:00Z","publication":"2017","modification":"2025-04-05T12:33:17.167Z","creation":"2019-03-27T03:05:27Z"},"accession":"S-EPMC5738835","cross_references":{"pubmed":["29296277"],"doi":["10.1186/s13229-017-0182-4"]}}