Table 2.

Summary of pathogenic mutations in NDUFS4, NDUFS6, NDUFA12, and NDUFAF2.

Subunit	Mutation DNA	Mutation Protein	Disease	Reference
NDUFS4	c.44 G > A	p.Trp15*	Leigh like syndrome	[65]
	c.44 G > A	no complex I assembly	Leigh like syndrome	[68]
	c.99-1 G > A c.462delA	p.Ser34Ilefs*4 p.Lys154Asnfs*34	Leigh syndrome	[97]
	c.221delC	p.Thr74Ilefs*17	Complex I deficiency	[97]
	c.289delG	p.Tyr97*	Leigh like syndrome	[68]
	c.291delG	p.Trp97*	Leigh syndrome	[73]
	c.316 C > T	p.Arg106*	Leigh like syndrome	[98]
	c.340 T > C	p.Trp114Arg	Leigh syndrome	[99]
	c.355 G > C c.462delA	p.Asp119His p.Lys154Asnfs*34	Leigh syndrome	[72]
	c.393dupA	p.Glu132Argfs*15	Leigh syndrome	[70]
	c.462delA	p.Lys154Asnfs*34	Leigh syndrome	[69]
	c.466-470 AAGTC duplication	frameshift, elongation of the carboxyl terminus by 14 residues	Leigh like syndrome	[68,75]
NDUFS6	c.186+2 T > A	splicing abnormality, deletion	Complex I deficiency	[100]
	c.313_315delAAAG	p.104Lys_106Thrfs	Complex I deficiency	[101]
	c.343 C > A c.309 + 5 G > A	p.Cys115Arg	Leigh syndrome	[102]
	c.344 G > A	p.Cys115Tyr	lactic acidemia	[103]
NDUFA12	c.86G > A	p.Arg29Lys	Leigh syndrome	[104]
	c.178C > T	p.Arg60*	Leigh syndrome	[105]
	c.178C > T	p.Arg60*	Mucolipidosis Type II, Leigh syndrome	[106]
	c.224G > A	p.Trp75*	Leigh syndrome	[104]
	c.253G > T	p.Glu85*	Leigh syndrome	[104]
	c.395delA	p.Lys132Argfs*50	Leigh syndrome	[104]
NDUFA2	c.1A > T	p.M1L	hypotonia, nystagmus, ataxia, acute episodes of encephalopathy	[107]
	c.9G > A	p.Trp3*	Leigh syndrome	[108]
	c.103delA	p.Ile35Serfs*	Leigh syndrome	[97]
	c.114C > G	p.Y38*	Leigh syndrome	[109]
	c.182C > T	p.R45*	progressive encephalopathy	[110]
	c.221G > A	p.Trp74*	Leigh syndrome	[97]