Table 3.

Genetic Mutations Associated with Fuchs Endothelial Corneal Dystrophy.

FECD	Gene	Protein	Mutation	Selected References
Early-onset	COL8A2	α2 subunit of collagen VIII	Q455K L450W	(Biswas et al., 2001) (Gottsch et al., 2005a; Liskova et al., 2007)
Late-onset	TCF4 (E2–2)	Class I basic helix-loop-helix transcription factor	CTG repeat within third intron	(Mootha et al, 2014; Wieben et al, 2012) (Baratz et al, 2010; Li et al, 2015) (Afshari et al, 2017)
			rs613872 rsl 7595731 rs9954153 rs2286812 rs784257
	DMPK	Myotonic dystrophy protein kinase	CTG repeat within the 3’ UTR	(Mootha et al, 2017; Winkler et al, 2018)
	SLC4A11	NaBC1 co-transporter	E399K G709E T754M c.99–100delTC	(Vithana et al, 2008)
			E167D R282P Y526C V575M G583D	(Riazuddin et al., 2010)
			G742R G834S W240S V507I T434I	(Soumittra et al, 2014)
	TCF8/ZEB1	Zinc-finger transcription factor	N696S N78T Q810P Q840P A905G P649A rs77516068 rsl49166539 IVS2+276 S234S E733K A818V L947Stop	(Mehta et al, 2008) (Riazuddin et al, 2010)
				(Gupta et al., 2015)
	L0XHD1	Highly conserved protein consisting entirely of polycystin/lipoxygenase/alpha-toxin (PLAT) domains	R547C rs450997	(Riazuddin et al., 2012) (Afshari et al., 2017)
	AGBL1	Cytosolic glutamate decarboxylase	R1028Stop c.2969G>C	(Riazuddin et al., 2013)
	KANK4	Cytoskeleton regulation by regulating actin polymerization	rs79742895	(Afshari et al., 2017)
	LAMC1	Extracellular matrix glycoprotein	rs3768617 R490W	(Afshari et al., 2017) (Wieben et al., 2018)
	LINC00970/ATP1B1	β-subunit of the Na+ −K+ATPase	rsl022114	(Afshari et al., 2017)
	DNA Repair enzymes
	RAD51	RAD51 protein involved in homologous recombination and repair of double-strand breaks	c.−61G>T c.−98G>C C allele	(Synowiec et al., 2013)
	FEN1	DNA repair enzyme Flap endonuclease 1	rs4246215	(Wojcik et al., 2014)
	XRCC1	DNA base-excision repair protein	c.H96A>G	(Wojcik et al., 2015)
	NEIL1	DNA glycosylases	g.46438521G>C	(Synowiec et al., 2015) (Synowiec et al., 2015)
	LIG3	DNA ligase 111	rslO52536 rs3135967
	Extracellular Matrix
	TGFBI	Transforming growth factor, p-induced	one haplotype	(Kuot et al., 2012)
	CLU	Clusterin	rs 17466684	(Kuot et al., 2012)
	COL8A2	(α2 subunit of collagen VIII	R304Q R434H	(Biswas et al., 2001; Gottsch et al., 2005a)
	Mitochondrial
	A10398G			(Li et al., 2014)
	Haplotype I			(Li et al., 2014)
	TSPOAP1	Peripheral-type benzodiazepine receptor-associated protein 1		(Wieben et al., 2018)
	Other
	PITX2	Transcription factor	g.20913G>T	(Kniestedt et al., 2006)
	PTPRG	Protein tyrosine phosphatase	rs7640737 rs 10490775	(Baratz et al., 2010)
	FASLG	FAS ligand	c.−671A>G	(Li et al., 2001; Liu et al., 2016) (Hejtmancik et al, 2008)
	KCNJ13	Kir7.1 inward rectifying potassium channel	R162W