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Table 2 Mutations in genes involved in the PI3K-AKT-mTOR pathway identified in the ten patients with macrocephaly and DD/ASD

From: Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism

Patient ID Gene Nucleotide change Amino acid change Inheritance Mutation type Allelic count in ExAC No. of cases in COSMIC Reported mutation
1 PIK3CA c.G263A p.(Arg88Gln) De novo Mosaic 0 137 43
2 PIK3CA c.G1030A p.(Val344Met) Maternal Germline 0 15 27
3 PTEN c.G314T p.(Cys105Phe) De novo Germline 0 6 39b
c.G492T p.(Lys164Asn) Maternal Germline 1 in 120,466 0b  
4 PTEN c.G509C p.(Ser170Thr) De novo Germline 0 0b 35.36b
5a MTOR c.G5395A p.(Glu1799Lys) De novo Germline 0 10 28.45
6 PTEN c.546delA p.(Lys183ArgfsTer16) De novo Germline 0 0b  
7 PPP2R5D c.G592A p.(Glu198Lys) De novo Germline 0 1 29.46
8 PPP2R5D c.G592A p.(Glu198Lys) De novo Germline 0 1 29.46
9 PIK3CA c.G2740A p.(Gly914Arg) De novo Mosaic 0 2 25.27
10 PTEN c.A203G p.(Tyr68Cys) De novo Germline 0 4 37.38
  1. The COSMIC database (June 2017) was accessed to retrieve the number of somatic mutations identified in cancer samples
  2. aThis patient was reported in a previous study [28] with the patient ID LR15-065
  3. bOther mutations in the same codon have been reported