Table 3.

Autosomal recessive and compound heterozygous variants detected with trio-Whole exome sequencing.

Trio	Gene	Chromosome Position	Ref/Alt	Effect	Inherited	dbSNP	Freq	Damaging
Trio 1	ATP13A3	3:194151733	C/T	M	AR		0	5 of 6
	ADAT1	16:75642801	G/A	M	AR	rs77029992	0.0189	5 of 6
Trio 2	EFCAB4B	12:3768803	T/G	M	AR	rs201641139	0	4 of 6
	VPS18	15:41192187	G/A	M	AR	rs202222195	0	5 of 6
	EP400	12:132505812	A/G	M	Father		0	4 of 6
	EP400	12:132547094	−/CAGCAG	IN	Mother	rs528214697	0
	LRRC40	1:70614325	−/A	FR	Father	rs763171257	0
	LRRC40	1:70625071	G/A	M	Mother	rs145682711	0.001	4 of 6
	PHKB	16:47536996	G/A	M	Father	rs144486825	0.001	5 of 6
	PHKB	16:47549473	G/T	M	Mother	rs56257827	0.0119	6 of 6
	PHKB	16:47549492	A/G	M	Mother	rs117218785	0.002	4 of 6
Trio 4	CD248	11:66083816	G/A	M	AR	rs149949198	0.004	6 of 6
	KCNT1	9:138664772	C/G	M	Father	rs148162797	0	4 of 6
	KCNT1	9:138678332	G/A	M	Mother	rs867696317	0	5 of 6
	OBSCN	1:228539083	C/T	M	Mother	rs754776763	0	5 of 6
	OBSCN	1:228556519	A/T	M	Father		0	5 of 6
	RABEPK	9:127982839	C/A	M	Mother	rs74769898	0.003	5 of 6
	RABEPK	9:127982852	C/−	FR	Father	rs546948946	0.004
	ACAD10	12:112159522	T/C	M	Father		0	5 of 6
	ACAD10	12:112186274	C/T	M	Mother	rs34245489	0.0418	4 of 6
	DNAH7	2:196602773	G/A	M	Father	rs114621989	0.0109	5 of 6
	DNAH7	2:196726484	C/T	M	Mother	rs201185180	0.002	5 of 6
	ZP4	1:238048530	G/A	M	Mother	rs139132490	0	6 of 6
	ZP4	1:238050081	T/C	M	Father	rs36017138	0.007	6 of 6

Data were filtered for frequency <5% and for functional impact prediction. Freq, allele frequency in the 1000 Genomes Project phase 3 dataset; Damaging, only mutations suggested as potentially damaging by at least four out of six bioinformatic tools (dbNSFP Functional Predictions and Scores 3.0) were shown. Candidate genes proposed by the present study are underlined. M, missense variant; IN, in-frame insertion; FR, frameshift variant; AR, autosomal recessive.