Molecular Vision: Murugan, Mol Vis 2024; 30:305-318. Table 1

Table 1. CHST6 mutations identified in the MCD families.

Mutation type	Mutation details	No. of families	No. of patients
Missense	c.148C>T (p.R50C)	4	4
	c.158C>T (p.S53L)	15	18
	c.278G>A (p.R93H)	6	7
	c.379C>T (p.R127C)	2	2
	c.385C>G (p.L129V)	1	2
	c.391C>T (p.S131P)	1	1
	c.290 G>A (p.R202H)	1	1
	c.614G>A (p.R205Q)	3	3
	c.613C>T (p.R205W)	1	1
	c.843C>G (p.D221E)	1	1
	c.820G >C (p.E274Q)	1	1
Nonsense	c.242C>A (p.S81X)	1	1
Frameshift (del)	c.180delC (p.F60LfsX10)	2	2
	c.198delC (p.V66VfsX3)	1	1
	c.199T>A (p.F67SfsX3)	1	1
	c.545delA (p.Q182RfsX199)	11	12
Frameshift (delins)	c.581_586delACCTACinsGGTN (p.194_R196delinsRC)	3	4
Deletion of ORF		5	10

Sixty-eight families consisting of 68 probands and available family members were genetically screened. Eight families did not harbor CHST6 gene mutations. Mutation p.L129V marked in bold represents a novel mutation identified in the present study. CHST6- carbohydrate sulfotransferase gene; MCD- Macular corneal dystrophy; del-deletions; delins- deletion-insertion; ORF- Open reading frame. Additional details of the identified mutations in the study participants are given in the Appendix 1.