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

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