Analysis of the VSX1 gene in sporadic keratoconus patients from China

BMC Ophthalmology

Table 3 Summary of VSX1 coding variants identified in patients with keratoconus [22]

Coding variants	Clinical significance	Phenotype	Unrelated Controls	Ethnic groups	References
p.Leu 17 Pro	Pathogenic^a	Keratoconus	–	Italian	[17]
p.Leu 17 Val	Nonpathogenic	Keratoconus	+	Korean	[31]
p. Pro 58 Leu	Pathogenic^{a, b}	Keratoconus	–	Caucasian	[32]
p. Leu 159 Met	Unknown	Keratoconus	–	Caucasian	[16, 18]
p. Asn 151 Ser	Pathogenic^a	Keratoconus	–	Korean	[33]
p. Gly 160 Val	Nonpathogenic	Keratoconus	+	Korean	[31, 33]
p. Val 199 Leu	Nonpathogenic	Keratoconus	+	Korean	[31]
p. Arg 166 Trp	Unknown	Keratoconus	+	Caucasian, Iranian	[16, 34]
p. Gln 175 His	Unknown	Keratoconus	–	Indian	[35]
p. Arg 217 His	Nonpathogenic	Keratoconus	+	Indian, Pakistan, European	[19, 36]
p. Gly 239 Arg	Pathogenic^{a, b}	Keratoconus	–	Italian	[29]
p. His 244 Arg	Unknown	Keratoconus	+	Caucasian, Iranian	[16, 18, 34, 37]
p. Ser 251 Thr	Unknown	Keratoconus	–	Indian	[22]
p. Pro 247 Arg	Nonpathogenic	Keratoconus	+	Italian	[16, 17, 38]
p. Leu 268 His	Pathogenic^{a, b}	Keratoconus	–	Indian	[22]

Coding variants of the VSX1 gene have been reported in studies based on an original report^a and bioinformatic predictions^b. The symbols “+” and “−” represent present and absent, respectively

ISSN: 1471-2415