Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy

Table 1

Mutations in UBIAD1 associated with Schnyder corneal dystrophy.

Exon	Nucleotide change	Amino acid change	Number of families reported	References
1	c.289G>A	p.(Ala97Thr)	1	[18]
1	c.290G>A	p.(Gly98Ser)	1	[19]
1	c.305A>G	p.(Asn102Ser)	20	[15, 17, 18, 20–23]
1	c.308C>T	p.(Thr103Ile)	1	Current study
1	c.334G>A	p.(Asp112Asn)	1	[18]
1	c.335A>G	p.(Asp112Gly)	1	[17]
1	c.353A>G	p.(Asp118Gly)	1	[21]
1	c.355A>G	p.(Arg119Gly)	1	[17, 20]
1	c.361C>G	p.(Leu121Val)	1	[20]
1	c.361C>T	p.(Leu121Phe)	3	[21, 24]
1	c.365T>A	p.(Val122Glu)	1	[18]
1	c.365T>G	p.(Val122Gly)	1	[18]
1	c.511T>C	p.(Ser171Pro)	1	[21, 25]
1	c.521A>G	p.(Tyr174Cys)	1	[26]
1	c.524C>T	p.(Thr175Ile)	2	[17, 21]
1	c.529G>C	p.(Gly177Arg)	1	[15]
1	c.529G>A	p.(Gly177Arg)	2	[21]
2	c.530G>A	p.(Gly177Glu)	6	[27]
2	c.542A>G	p.(Lys181Arg)	1	[26]
2	c.556G>A	p.(Gly186Arg)	1	[21]
2	c.563T>A	p.(Leu188His)	1	[18]
2	c.695A>G	p.(Asn232Ser)	1	[17]
2	c.697A>C	p.(Asn233His)	1	[26]
2	c.708C>G	p.(Asp236Glu)	1	[21]
2	c.710T>A	p.(Ile245Asn)	1	[23]
2	c.718G>A	p.(Asp240Asn)	1	[28]

Four of the six families may be related and thus may be due to a common founder effect.