Table 1 of Sultana, Mol Vis 2009; 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
Stroma Keratocytes
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
21A -ve -ve <2 Missense p.Pro204Arg I
22A 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
28B -ve -ve <4 Frameshift p.His335CysfsX27 I
29B -ve -ve <2 Frameshift p.His335CysfsX27 I
30B Not done Not done <2 Frameshift p.His335CysfsX27 I
31B Not done Not done <2 Frameshift p.His335CysfsX27 I
32C -ve +ve <4 Missense p.[Ser98Trp]+[Phe107Ser] IA
33C -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
41E Not done Not done 105 - No CHST6 mutation II?
42E 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
50F Not done Not done <4 Frameshift+ Missense [Gln182ArgfsX199]+ [Leu276Pro] I/IA
51F 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
60G -ve -ve 61 Missense p.[Ser210Phe]+[Asp221Glu] Atypical
61G -ve +ve Not done Missense p.[Ser210Phe]+[Asp221Glu] IA?
62H +ve +ve 101 Missense Asp221Tyr II
63H -ve +ve <4 Missense Asp221Tyr IA
64H -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.

Sultana, Mol Vis 2009; 15:319-325. http://www.molvis.org/molvis/v15/a32

©2009 Molecular Vision http://www.molvis.org/molvis/

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