Table 3

New genetic diagnoses for seven index cases with complex I deficiency

PedigreePatient ID numberGenePosition (hg19)dbSNPTranscriptVariationsSupporting evidence
NucleotideAmino acid
  • chr2:201943669

  • chr2:201950249

  • c.64T>C het*

  • c.208G>T het*

  • p.Trp22Arg

  • p.Gly70X

Rescue, seg, conserv, truncation
MITO03633463NDUFS3chr11:47603988rs104894270NM_004551.2c.532C>T homp.Arg199TrpKnown disease variant17
  • chr11:67800607

  • chr11:67803823

  • c.229C>T het*

  • c.476C>A het*

  • p.Arg77Trp

  • p.Ala159Asp

Rescue, seg, conserv
MITO02133027NDUFS8chr11:67800467NM_002496.3c.187G>C hom*p.Glu63GlnRescue, seg, conserv
MITO05359029ACAD9chr3:128528894NM_014049.4c.1594C>T homp.Arg532TrpKnown disease variant14
  • chr15:65295576

  • chr15:65313871

  • c.994C>T het*

  • c.626C>T het

  • p.Arg332X

  • p.Arg181SerfsX5

  • (p.Ser209Leu)

Truncation, seg, known disease variant,18 skipping exon 4
MITO06161606MTFMTchr15:65313871NM_139242.3c.626C>T hom
  • p.Arg181SerfsX5

  • (p.Ser209Leu)

Known disease variant,18 skipping exon 4
  • * Previously undescribed DNA variant.

  • conserv, amino acid conserved in ≥85% of 39–42 vertebrate species; het, heterozygous; hom, homozygous; rescue, pathogenicity established by rescue of complex I defect in patient fibroblasts; seg, variant segregates with disease phenotype in family.