Table 1

Pathogenic nuclear DNA (nDNA) variants identified in the South African cohort

GeneGenotypeTotal number of genetically confirmed casesAssociated disease phenotype
MPV17 c.106C>T (p.(Gln36Ter, Ser25Profs*49)) homozygous38 (*24 were previously described)MPV17-related mtDNA depletion syndrome
TAZ1 c.974del5 (p.228fs) hemizygous1Barth syndrome
CPT2 CPT2: p.Ser113Leu homozygous1CPTII deficiency
SERAC1 c.763_770dup (p.Pro258Metfs*22) homozygous1**MEGDEL (diagnosed through international collaboration)
BOLA3 c.159dupT p.(Asp54*) homozygous1***Multiple mitochondrial dysfunctions syndrome-2 (diagnosed through international collaboration)
Total cases diagnosed 42
  • Previously described variants: *Meldau et al 9; **Wortmann et al and Maas et al 7 8; ***Meldau et al. 6