Two novel missense substitutions in the VSX1 gene: clinical and genetic analysis of families with Keratoconus from India

Table 5 Summary of VSX1 coding variants identified in patients with KC and PPCD

Coding variants	Clinical significance	Phenotype	Unrelated	Ethnic groups	References
Coding variants	Clinical significance	Phenotype	Controls	Ethnic groups	References
p. Leu17Pro	Pathogenic^b	KC	-	Italian	[26]
p. Leu17Val	Non-pathogenic	KC	+	Korean	[23]
p. Pro58Leu	Pathogenic^bc	KC	-	Caucasian	[22]
p. Asp144Glu	Unknown	PPCD	-	Italian, Ashkenazi Jewish, British, European	[16, 26, 34–37]
p. Leu159Met	Unknown	KC	-	Caucasian	[16, 38]
p. Asn151Ser	Pathogenic^b	KC	-	Korean	[39]
p. Gly160Asp	Non-pathogenic	PPCD	-	Italian, European	[16, 26, 40]
p. Gly160Val	Non-Pathogenic	KC	+	Korean	[23, 39]
p. Val199Leu	Non pathogenic	KC	+	Korean	[23]
p. Arg166Trp	Unknown	KC	+	Caucasian, Iranian	[16, 24]
p. Gln175His	Unknown	KC	-	Indian	[25]
p. Arg217His	Non- Pathogenic	KC	+	Indian, Pakistan, European	[40, 41]
p. Gly239Arg	Pathogenic^bc	KC	-	Italian	[42]
p. His244Arg	Unknown	KC	+	Caucasian, Iranian	[16, 24, 38, 43]
p. Ser251Thr ^a	Unknown	KC	-	Indian	Present study
p. Pro247Arg	Non-pathogenic	KC	+	Italian	[16, 26, 35]
p. Leu268His ^a	Pathogenic^bc	KC	-	Indian	Present study

Coding variants of the VSX1 gene have been reported in present^a and other studies based on original report^b and bioinformatics predictions^c
KC: Keratoconus, PPCD: Posterior polymorphous corneal dystrophy, The symbols “ + ” and “-” represent present and absent, respectively

ISSN: 1471-2350