The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing

Table 2 Pathogenic or likely pathogenic mutations identified by medical exome sequencing

Patient	Gene	Transcript	Nucleotide change	Amino acid change	Het/Hom	Related disease	origin	Literature report
17	HPRT1	NM_000194	c.419delG	p.Gly140Alafs*26	hemi	Lesch-Nyhan syndrome	maternal	Novel
18	AARS2	NM_020745	c.806 G > A c.374 T > C	p.Gly269Asp p.Leu125Pro	het het	Leukoencephalopathy, progressive, with ovarian failure	Paternal Maternal	Novel Novel
19	EEF1A2	NM_001958	c.796C > T	p.Arg266Trp	het	Intellectual disability, autosomal dominant 38	de novo	Helbig,et al., 2016
20	TCF4	NM_001083962	c.1153C > T	p.Arg385Ter	het	Pitt-Hopkins syndrome	de novo	Zweier,et al., 2007
21	KIF1A	NM_004321	c.1262A > C	p.His421Pro	het	Intellectual disability, autosomal dominant 9	de novo	Novel
22	CACNA1A	NM_001127221	c.4991G > A	p.Arg1664Gln	het	Migraine, familial hemiplegic, 1	de novo	Tonelli,et al., 2006
23	STXBP1	NM_003165	c.536 T > G	p.Leu179Arg	het	Epileptic encephalopathy, early infantile, 4	de novo	Novel
24	B4GALT7	NM_007255	c.319G > C c.614 T > C	p.Glu107Gln p.Leu205Pro	het het	Ehlers-Danlos syndrome, spondylodysplastic type, 1	Paternal Maternal	Novel Okajima,et al., 1999

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