. 2009 Feb 9;15:319–325.

Table 1. Immunophenotypes and associated mutations in patients with MCD.

Patient number	Reactivity to KS antibody in		Serum AgKS (ng/ml)	Type of mutation	Mutation	MCD type
Patient number	Stroma	Keratocytes	Serum AgKS (ng/ml)	Type of mutation	Mutation	MCD type
1	-ve	-ve	<4	Frameshift	p.Ser32GlnfsX36	I
2	-ve	-ve	<2	Missense	p.Gly52Asp	I
3	-ve	-ve	Not done	Missense	Ser53Leu	I
4	-ve	-ve	<4	Missense	p.Phe107Ser	I
5	-ve	-ve	<4	Missense	p.Phe107Ser	I
6	-ve	-ve	Not done	Nonsense	p.Trp123X	I
7	-ve	-ve	<4	Nonsense	p.Cys153X	I
8^#	-ve	-ve	<2	Insertion	p.Arg195–196ins	I
9	-ve	-ve	<4	Missense	p.Pro204Gln	I
10^#	-ve	-ve	<2	Frameshift	p.Arg205TrpfsX176	I
11	-ve	-ve	6	Insertion	p.Trp219–220ins	I
12	-ve	-ve	<4	Insertion	p.Trp219–220ins	I
13	-ve	-ve	<4	Insertion	p.Trp219–220ins	I
14	-ve	-ve	<4	Nonsense	p.Glu347X	I
15	-ve	-ve	5	Frameshift	p.Val6ProfsX55	I
16	-ve	-ve	6	Missense	p.Ser54Phe	I
17	-ve	-ve	7	Frameshift	p.Phe60LeufsX10	I
18	-ve	-ve	8	Frameshift	p.Phe60LeufsX10	I
19	-ve	-ve	Not done	Missense	Cys165Ser	I
20	-ve	-ve	Not done	Missense	Cys165Trp	I
21^A	-ve	-ve	<2	Missense	p.Pro204Arg	I
22^A	Not done	Not done	<2	Missense	p.Pro204Arg	I
23	-ve	-ve	<2	Insertion	p.Trp219–220ins	I
24	-ve	-ve	Not done	Insertion	p.Trp219–220ins	I
25	-ve	-ve	<2	Missense	p.Asp221Tyr	I
26	-ve	-ve	Not done	Missense	p.Arg334Cys	I
27	-ve	-ve	Not done	Frameshift	p.His335CysfsX27	I
28^B	-ve	-ve	<4	Frameshift	p.His335CysfsX27	I
29^B	-ve	-ve	<2	Frameshift	p.His335CysfsX27	I
30^B	Not done	Not done	<2	Frameshift	p.His335CysfsX27	I
31^B	Not done	Not done	<2	Frameshift	p.His335CysfsX27	I
32^C	-ve	+ve	<4	Missense	p.[Ser98Trp]+[Phe107Ser]	IA
33^C	-ve	+ve	<4	Missense	p.[Ser98Trp]+[Phe107Ser]	IA
34	-ve	+ve	<4	Missense	p.Phe121Ser	IA
35	-ve	+ve	<4	Insertion	p.Trp219–220ins	IA
36	-ve	+ve	Not done	Missense	p.Asp221Glu	IA
37^#D	-ve	+ve	Not done	Missense	p.Asp221Glu	IA
38^#D	-ve	+ve	Not done	Missense	p.Asp221Glu	IA
39	+ve	+ve	not done	Frameshift	p.[Phe67SerfsX3]+[=]	II
40	+ve	+ve	not done	Nonsense +missense	p.[Trp2X;Leu3Met]+ [Trp2X;Leu3Met]	II
41^E	Not done	Not done	105	-	No CHST6 mutation	II?
42^E	Not done	Not done	42	-	No CHST6 mutation	II/atypical?
43	Not done	Not done	<4	Missense	p.Gly52Asp	I/IA
44	Not done	Not done	<4	Frameshift	p.Phe60LeufsX10	I/IA
45	Not done	Not done	<4	Nonsense	p.Gly309X	I/IA
46	Not done	Not done	<4	Missense	p.[Val56Arg]+ [Ser167Phe]	I/IA
47	Not done	Not done	<4	Missense	p.Ala73Thr	I/IA
48	Not done	Not done	8	Nonsense	p.Trp123X	I/IA
49	Not done	Not done	<4	Missense	p.Ser131Pro	I/IA
50^F	Not done	Not done	<4	Frameshift+ Missense	[Gln182ArgfsX199]+ [Leu276Pro]	I/IA
51^F	Not done	Not done	<4	Missense	p.Leu276Pro	I/IA
52	Not done	Not done	<2	Missense	p.Leu193Pro	I/IA
53	Not done	Not done	<2	Missense	p.Arg272Ser	I/IA
54	-ve	-ve	63	Nonsense	p.Gln18X	Atypical
55	-ve	+ve	95	Missense	p.Asp221Glu	Atypical
56	-ve	+ve	388	Missense	p.[Ser98Leu]+[=]	Atypical
57	-ve	-ve	33	Missense	p.Phe178Cys	Atypical
58	-ve	-ve	19	Missense	p.Arg202Ser	Atypical
59	-ve	+ve	142	Missense	p.Asp221Glu	Atypical
60^G	-ve	-ve	61	Missense	p.[Ser210Phe]+[Asp221Glu]	Atypical
61^G	-ve	+ve	Not done	Missense	p.[Ser210Phe]+[Asp221Glu]	IA?
62^H	+ve	+ve	101	Missense	Asp221Tyr	II
63^H	-ve	+ve	<4	Missense	Asp221Tyr	IA
64^H	-ve	-ve	6	Missense	Asp221Tyr	I

Details of serum and corneal AgKS reactivity, associated CHST6 mutations and corresponding MCD immunophenotypes are listed for all patients studied. Reactivity to AgKS in cornea is denoted as present (+ve) or absent (-ve). Mutations in the protein are as described earlier [16,17]. Members of the same family are denoted by letters A-H in superscripts. The sharp (hash mark ‘#’) indicates patients that had both corneas evaluated.