De novo mutations within metabolism networks of amino acid/protein/energy in Chinese autistic children with intellectual disability

Table 3 Clinical phenotypes in carries with the mutations in genes involving the three important pathways

Case	Gene	Sex	Diagnosed age	Father age(y)*	Mother age (y)*	DQ/IQ	Language	Walking age (m)	Hydroxyproline	Thyroid function	C13-C18	C0-C6
K2	ALG9 PALM2	M	2.3	33	31	68	NV	13	Normal	Normal	Normal	C2\C5 increased
AL4	MGAT4A	M	3	33	34	55	NV	13	NA	Normal	Normal	C2 increased
D3	PCK2 CACNA1A	M	2.8	–	–	NA	NV	15	Decreased	Normal	Normal	Normal
AM5	PLEKHA1	M	3.2	28	26	61	NV	11	Normal	Normal	Normal	C3 increased
AG7	PSME3	M	3.4	34	33	60	V	16	NA	FT3 increased	Normal	C6 decreased
V3A	ADI1	M	1.9	25	23	68	NV	15	Normal	Normal	Normal	Normal
R10	TLE3	M	3.3	26	23	99	V	15	Decreased	Normal	Normal	C3-5 increased

ISSN: 1479-7364