A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly

Table 1 The panel of targeted genes involved in mTOR pathway

Gene	Chr	Number of exons	Number of amplicons	Total Bases	Overall coverage (%)
PIK3CA	3	20	34	3407	98.3
PIK3CB	3	22	30	3433	98.7
PIK3CD	1	22	37	3355	97.6
PIK3R1	5	18	23	2506	100
PIK3R2	19	15	19	2337	79.2
PIK3R3	1	10	14	1486	100
PTEN	10	9	12	1302	97.6
PDPK1	16	14	19	1811	95.3
AKT1	14	13	22	1573	97.5
AKT2	19	14	18	1687	98.9
AKT3	1	14	17	1624	98.8
RHEB	7	8	8	635	95.1
MTOR	1	57	69	8220	99.7
TSC1	9	22	29	3834	100
TSC2	6	42	61	6006	96.5
	Total	300	412	43216	97.4

ISSN: 1471-2350