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Table 2 Molecular variants identified in 67 individuals of the study group

From: New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre

Gene Chromosome:RefSeq Variant 1 Variant 2 Zygosity status Mode ID patient
Type Status Origin Type Status Origin
Mitochondrial disease gene
 ACAD9 chr3:NM_014049.4 c.514G>A/p.Gly172Arg Novel mat c.803C>T/p.Ser268Phe Novel pat comphtz AR 15
 ACAD9 chr3:NM_014049.4 c.1552C>T/p.Arg518Cys Known mat c.1553G>A/p.Arg518His Known pat comphtz AR 23
 ACAD9 chr3:NM_014049.4 c.728C>G/p.Thr243Arg Novel ND c.1552C>T/p.Arg518Cys Known mat comphtz AR 53
 ADCK3 chr1:NM_020247.4 c.827A>G/p.Lys276Arg Novel mat c.1702delG/p.Gly568Argfs Novel pat comp htz AR 61
 AIFM1 chrX:NM_004208.3 c.1474T>C/p.Tyr492His Novel mat   hemi XLR 25
 CLPB chr11:NM_030813.4 c.2045T>A/p.Ile682Asn Known pat c.1937_1938insG/p.645Gly_646Cysfs Known mat comphtz AR 5
CLPB chr11:NM_030813.4 c.1249C>T/p.Arg417a Known pat c.748C>T/p.Arg250a Known mat comphtz AR 27
 CLPB chr11:NM_030813.4 c.1249C>T/p.Arg417a Known pat c.1222A>G/p.Arg408Gly Known mat comphtz AR 67
 COX10 chr17:NM_001303.3 c.1030A>G/p.Met344Val Novel pat c.1270dupC/p.Leu424Profs Novel mat comphtz AR 9
 COX10 chr17:NM_001303 c.674C>T/p.Pro225Leu Known mat c.674C>T/p.Pro225Leu Known pat hom AR 36
 DLD chr7:NM_000108.4 c.1123G>A/p.Glu375Lys Known mat c.1123G>A/p.Glu375Lys Known  pat hom AR 31
 EARS2 chr16:NM_001083614.1 c.164G>A/p.Arg55His Known mat c.325G>C/p.Gly109Arg Novel pat comphtz AR 7
 EARS2 chr16:NM_001083614.1 c.164G>A/p.Arg55His Known pat c.1256C>T/p.Pro419Leu Novel mat comphtz AR 70
 FBXL4 chr6:NM_012160.4 c.858+1G>T/p.? Novel pat c.585+5G>C/p.? Novel mat comphtz AR 3
 FBXL4 chr6:NM_012160.4 c.1303C>T/p.Arg435a Known ND c.64C>T/p.Arg22a Novel mat comphtz AR 52
 FBXL4 chr6:NM_012160.4 c.64C>T/p.Arg22a Novel mat c.64C>T/p.Arg22a Novel pat hom AR 55
 MTATP6 chrM:NC_012920.1 m.9185T>C/p.Leo220Pro Known mat   hompl M 32
 MTFMT chr15:NM_139242.3 c.994C>T/p.Arg332a Known ND c.626C>T/p.Ser209Leu Known ND comphtz AR 91
 MTND1 chrM:NC_012920.1 m.3902_3908invACCTTGC/p.? Known de novo   hetpl M 22
 MTND1 chrM:NC_012920.1 m.3688G>A/p.Ala128Thr Known ND   hompl M 64
 MTND3 chrM:NC_012920.1 m.10254G>A/p.Asp66Asn Known de novo   hetpl M 57
 MTND5 chrM:NC_012920.1 m.12706T>C/p.Phe124Leu Known de novo   hetpl M 34
 MTND5 chrM:NC_012920.1 m.13513G>A/p.Asp393Asn Known de novo   hetpl M 35
 NAXE chr1:NM_144772.2 c.653A>T/p.Asp218Val Known mat c.743_744delC/p.247Ala_248Thrfs Known pat  comphtz AR 12
 NDUFS6 chr5:NM_004553.4 c.313_315delAAAG/p.104Lys_106Thrfs Novel pat c.334_359del26ins13/p.Glu112 fs Novel mat comphtz AR 1
 NDUFS7 chr19:NM_024407.4 c.376C>T/p.Leu126Phe Novel ND c.504G>C/p.Arg168Ser Novel ND het AR 75
 NDUFV1 chr11:NM_007103.3 c.733G>A/p.Val245Met Novel pat c.383G>T/p.Arg128Leu Novel mat comphtz AR 10
 OPA1 chr3:NM_015560.2 c.1146A>G/p.Ile382Met Known mat   htz AD 33
 PARS2 chr1:NM_152268.3 c.1091C>G/p.Pro364Arg Novel mat c.239T>C/p.Ile80Thr Novel pat comphtz AR 60
 PC chr11:NM_000920.3 c.808C>T/p.Arg270Trp Known pat c.2381_2383delTGG/p.Val794del Novel mat comphtz AR 29
 PC chr11:NM_000920.3 c.1487G>A/p.Arg496Gln Novel ND c.584C>T/p.Ala195Val Novel ND comphtz AR 71
 PDHA1 chr X:NM_000284.3 c.262C>T/p.Arg88Cys Known mat   hemi XLD 19
 PDHA1 chrX:NM_000284.3 c.856_859dupACTT/p. Arg288Leufs Novel de novo   htz XLD 56
 PDHA1 chrX:NM_000284.3 c.933_935del/p.Arg311del l Known de novo   htz XLD 66
 PDHA1 chrX:NM_000284.3 c.291G>A/p.? Novel de novo   hemi, mosaic XLD 68
 POLG chr15:NM_001126131.1 c.2639C>A/p.Ala880Asp Novel pat c.2243G>C/p.Trp748Ser Known mat comphtz AR 113
 RARS2 chr6:NM_020320.3 c.1026G>A/p.Met342Ile Novel mat c.622C>T/p.Gln208a Novel pat comphtz AR 41
 RRM2B chr8:NM_015713.4 c.414_415delCA/p.Tyr138a Novel mat c.414_415delCA/p.Tyr138a  Novel ND hom AR 21
 RRM2B chr8:NM_015713.4 c.686G>T/p.Gly229Val Known mat c.686G>T/p.Gly229Val Known pat hom AR 51
 SCO2 chr22:NM_005138.2 c.418G>A/p.Glu140Lys Known ND c.418G>A/p.Glu140Lys Known ND hom AR 54
 SERAC1 chr6:NM_032861.3 c.1822_1828+10delinsACCAACAGG Known ND c.1822_1828+10delinsACCAACAGG Known ND hom AR 37
 SLC19A3 chr2:NM_025243.3 c.68G>T/p.Gly23Val Known Pending c.68G>T/p.Gly23Val Known  Pending hom AR 58
 SLC19A3 chr2:NM_025243.3 c.74dupT/p.Ser26Leufs Known ND c.74dupT/p.Ser26Leufs Known  ND hom AR 109
 SLC25A12 chr2:NM_003705.4 c.1335C>A/p.Asn445Lys Novel mat c.1335C>A/p.Asn445Lys Novel pat hom AR 24
 TAZ chrX:NM_000116.3 c.684_685insC/p.227Phe_228Profs Novel ND   hemi XLR 28
 TMEM126B a chr11:NM_018480.4 c.635G>T/p.Gly212Val Known mat c.635G>T/p.Gly212Val Known  pat hom AR 59
 VARS2 chr6:NM_001167734.1.5 c.1100C>T/p.Thr367Ile Known Pending c.1490G>A/p.Arg497His Novel Pending comphtz AR 97
Non mitochondrial disease gene
 ADAR chr1:NM_001111.4 c.3202+1G>A/p.? Novel ND c.577C>G/p.Pro193Ala Known ND comphtz AR 18
 CACNA1A chr19:NM_001127221.1 c.1997C>T/p.Thr666Met Known mat   htz AD 39
 CDKL5 chrX:NM_003159.2 c.1942C>T/p.Gln648a Novel mat   hemi XLD 65
 CLN3 chr16:NM_001042432.1 c.954_962+18del27/p.Leu313_Trp321del Known pat c.461-280_677+382del966 Known Pending  comphtz AR 88
 CPS1 chr2:NM_001875.4 c.1837-8A>G/p.? Known mat c.3691G>C/p.Ala1231Pro Novel Paternal comphtz AR 13
 CPS1 chr2:NM_001875.4 c.1289C>G/p.Ser430a Novel mat c.3971_3972delT/p.1323Ile_1324Leufs Novel pat  comphtz AR 40
 DMD chr X:NM_004006 c.31+1G>A/p.? Novel mat   hemi XLR 38
 DYSF chr2:NM_003494.3 c.1180+5G>A/p.? Known ND c.6124C>T/p.Arg2042Cys Known ND comphtz AR 45
 GBE1 chr3:NM_000158.3 c.1621A>T/p.Asn541Tyr Novel mat c.263G>A/p.Cys88Tyr Novel pat comphtz AR 14
 GFAP chr17:NM_002055.4 c.1100G>C/p.Arg367Thr Novel de novo   htz AD 42
 HSD17B4 chr5:NM_000414.3 c.46G>A/p.Gly16Ser Known ND c.367C>T/p.His123Tyr Novel ND comphtz AR 30
 MECP2 chrX:NM_004992.3 c.89delA/p.Lys30Argfs Novel de novo   hemi XLD 106
 MYBPC3 chr11:NM_000256.3 c.1351+1G>A/p.? Known pat   htz AD 8
 PEX5 chr12:NM_001131025.1 c.1669C>T/p.Arg557Trp Known mat c.1799C>T/p.Ser600Leu Novel pat comphtz AR 20
 PGAP2 chr11:NM_001256240.1 c.2T>G/p.Met1? Known mat c.221G>A/p.Arg74His Known pat comphtz AR 73
 PIGN chr18:NM_176787.4 c.932T>G/p.Leu311Trp Known mat c.790G>A/p.Gly264Arg Known pat comphtz AR 6
 PRF1 chr10:NM_001083116.1 c.808_812delGGCAG/p.Gly270 fs Novel mat c.658G>A/p.Gly220Ser Known pat comphtz AR 2
 SBDS chr7:NM_016038.2 c.258+2T>C/p.? Known pat c.184A>T/p.Lys62a Novel mat comphtz AR 95
 SCN2A chr2:NM_021007.2 c.2948T>G/p.Leu983Trp Novel de novo   htz AD 47
New candidate gene for mitochondrial disease
 NDUFB8 chr10:NM_005004.3 c.432C>G/p.Cys144Trp Novel mat c.227C>A/p.Pro76Gln Novel pat comphtz AR 26
  1. mat maternal, pat paternal, ND not determined (DNA not available), hom homozygote, htz heterozygote, comp htz compound heterozygote, hemi hemizygote, hompl homoplasmic, hetpl heteroplasmic, AR autosomal recessive inheritance, AD autosomal dominant inheritance, XLR X-linked recessive inheritance, XLD X-linked dominant inheritance, M mitochondrial inheritance
  2. aData published on ESHG 2016 by Alston et al.