Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism.
Kit San YeungWinnie Wan Yee TsoJanice Jing Kun IpChristopher Chun Yu MakGordon Ka Chun LeungMandy Ho Yin TsangDingge YingSteven Lim Cho PeiSo Lun LeeWanling YangBrian Hon-Yin ChungPublished in: Molecular autism (2017)
We identified mutations in the PI3K-AKT-mTOR signalling pathway in nearly half of our patients with macrocephaly and developmental delay/autism spectrum disorder. These patients have subtle dysmorphic features and mild developmental issues. Clinically, patients with germline mutations are difficult to distinguish from patients with somatic mutations, and therefore, sequencing of buccal or saliva DNA is important to identify somatic mosaicism. Given the high diagnostic yield and the management implications, we suggest implementing comprehensive genetic testing in the PI3K-AKT-mTOR pathway in the clinical evaluation of patients with macrocephaly and developmental delay and/or autism spectrum disorder.
Keyphrases
- autism spectrum disorder
- intellectual disability
- end stage renal disease
- attention deficit hyperactivity disorder
- ejection fraction
- newly diagnosed
- chronic kidney disease
- copy number
- prognostic factors
- gene expression
- circulating tumor
- quality improvement
- patient reported outcomes
- cell free
- dna repair
- working memory
- circulating tumor cells