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

Table 1 Summary of genotype and phenotype characteristics in the study subjects

Family ID	Individuals	Age at diagnosis/Sex	Keratoconus	Segregation of VSX1 nucleotide changes
Family ID	Individuals	Age at diagnosis/Sex	Keratoconus	Coding variants	SNPs
KC–01	I:1	40/F	No	-	rs56157240,
	I:2	35/M	Yes/RE	L268H	rs12480307, rs56157240, IVS3–24C > T
	II:1	22/M	Yes/RE	L268H	rs12480307, rs56157240, IVS3–24C > T
	II:2^a	19/M	Yes/BE	L268H	rs12480307, rs56157240
KC–02	I:1	42/F	No	-	rs12480307, rs6138482, IVS3–24C > T
	I:2	37/M	Yes/LE	L268H	rs12480307, rs56157240, rs6138482,
	II:1^a	16/M	Yes/BE	L268H	rs12480307, rs56157240, rs6138482,
	II:2	12/F	No	-	rs12480307,
KC–03	I:1	45/F	No	-	rs56157240, rs6138482
	I:2	50/M	Yes/BE	S251T	IVS3–24C > T
	II:1	20/F	Yes/BE	S251T	IVS3–24C > T
	II:2^a	18/M	Yes/BE	S251T	rs56157240
KC–04	I:1	53/M	No	-	rs12480307, rs56157240
	I:2	44/F	Yes/BE	-	IVS3–24C > T
	II:1^a	29/M	Yes/LE	-	rs56157240
	II:2	26/F	No	-	rs56157240, IVS3–24C > T
KC–05	I:1	60/M	No	-	rs6138482, rs56157240, IVS3–24C > T
	I:2	47/M	Yes/LE	-	rs56157240,
	II:1	31/M	Yes/LE	-	IVS3–24C > T, rs6138482
	II:2^a	27/F	Yes/LE	-	rs56157240, rs6138482
KC–06	I:1	43/F	Yes/BE	-	rs12480307, rs56157240,
	I:2	50/M	No	-	rs6138482
	II:1	29/M	No	-	rs12480307, rs6138482
	II:2^a	24/F	Yes/BE	-	rs56157240, rs6138482
KC–07	I:1	53/F	Yes/BE	-	rs12480307, rs6138482, IVS3–24C > T
	I:2	61/M	No	-	rs12480307, rs6138482,
	II:1^a	34/M	Yes/RE	-	rs6138482, IVS3–24C > T
KC–08	I:1	39/F	No	-	rs12480307, rs6138482, rs56157240
	I:2	45/M	Yes/RE	-	rs6138482, rs56157240
	II:1^a	18/M	Yes/RE	-	rs12480307, rs56157240
	II:2	16/F	Yes/RE	-	rs6138482, rs56157240

RE: Right eye, LE: Left eye, BE: Both eye, M-Male, F-Female, The symbol (−) denotes the absence. Symbol (^a) indicates the probands