Association of selected genetic variants in CBS and MTHFR genes in a cohort of children with homocystinuria in Sri Lanka

Table 1 Comparison of identified genetic variants in CBS with identified clinicopathological characteristics

Sample	General information				Variant status/zygosity				Clinicopathological characteristics
	Age at diagnosis (years)	Current age at study (years)	Gender (F/M)	Family history	*CBS* gene		*MTHFR* gene		Ectopia Lentis	Myopia	Glaucoma	Visual impairment	Learning difficulties	Marfanoid features	Personality changes
	Age at diagnosis (years)	Current age at study (years)	Gender (F/M)	Family history	c.833T > C	c.19del	c.1286A > C	c.665C > T	Ectopia Lentis	Myopia	Glaucoma	Visual impairment	Learning difficulties	Marfanoid features	Personality changes
1	9	14	F	Not reported	Homo Wild	Homo Wild	Hetero	Homo Wild	√	√		√	√
2	6	13	M	Consanguineous parents	Homo Wild	Homo Wild	Hetero	Homo Wild		√		√		√
3	4	11	M	Non-consanguineous parents Grandfather had a similar eye problem Siblings	Homo Wild	Homo Mutated	Hetero	Homo Wild	√	√		√	√	√	√
4	6	20	F		Homo Wild	Homo Mutated	Hetero	Homo Wild	√	√	√	√	√	√	√
5	5	16	F	Consanguineous parents Siblings	Homo Wild	Homo Mutated	Homo Wild	Hetero	√	√		√	√	√	√
6	6	19	M	Consanguineous parents Siblings	Homo Wild	Homo Mutated	Hetero	Homo Wild	√	√		√	√	√
7	5	14	F	Consanguineous parents Siblings	Homo Wild	Homo Wild	Hetero	Homo Wild	√	√		√	√	√
8	5	9	M	Consanguineous parents Siblings	Homo Wild	Homo Wild	Hetero	Homo Wild	√	√		√	√	√