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

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

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
3	PTEN	c.G492T	p.(Lys164Asn)	Maternal	Germline	1 in 120,466	0^b
4	PTEN	c.G509C	p.(Ser170Thr)	De novo	Germline	0	0^b	35.36^b
5^a	MTOR	c.G5395A	p.(Glu1799Lys)	De novo	Germline	0	10	28.45
6	PTEN	c.546delA	p.(Lys183ArgfsTer16)	De novo	Germline	0	0^b
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

The COSMIC database (June 2017) was accessed to retrieve the number of somatic mutations identified in cancer samples
^aThis patient was reported in a previous study [28] with the patient ID LR15-065
^bOther mutations in the same codon have been reported

ISSN: 2040-2392