Table 1.
Pedigree | CFEOM Phenotype | Inheritance | Forced Ductions | Cytogenetic analysis | FEOM1 | FEOM3 | FEOM2 | ARIX mutations | Publication |
A | CFEOM1 | AD | + | normal | LINKED | refs. [6,15] | |||
B | CFEOM1 | AD | + | normal | LINKED | refs. [6,15] | |||
C | CFEOM1 | AD | + | not done | LINKED | ref. [15] | |||
H | CFEOM1 | AD | + | normal | LINKED | ref. [15] | |||
AA | CFEOM1 | AD | + | normal | LINKED | ref. [15] | |||
AC | CFEOM1 | AD | + | normal | LINKED | ref. [15] | |||
AD | CFEOM1 | AD | + | normal | LINKED | ref. [15] | |||
CD | CFEOM1 | AD | + | not done | LINKED | ref. [25] | |||
CB | CFEOM1 | AD | not done | not done | c/w linkage | nc/w linkage | NOT LINKED | ref. [26] | |
BJ | CFEOM1 | AD | + | normal | LINKED | current | |||
CZ | CFEOM1 | AD | + | normal | LINKED | current | |||
AG | CFEOM1 | AD | + | normal | c/w linkage | NOT LINKED | NOT LINKED | current | |
AJ | CFEOM1 | AD | + | not done | c/w linkage | nc/w linkage | nc/w linkage | current | |
AH | CFEOM1 | AD | + | normal | c/w linkage | nc/w linkage | nc/w linkage | current | |
T | CFEOM1 | AD | + | not done | c/w linkage | nc/w linkage | nc/w linkage | current | |
CT | CFEOM1 | AD | + | normal | c/w linkage | nc/w linkage | nc/w linkage | current | |
BC | CFEOM1 | AD | + | not done | c/w linkage | nc/w linkage | (c/w linkage) | none | current |
E | CFEOM1 | AD | + | normal | c/w linkage | c/w linkage | NOT LINKED | current | |
K | CFEOM1 | AD | + | normal | nc/w linkage | c/w linkage | (c/w linkage) | none | current |
BT | CFEOM1 | AD | + | normal | NOT LINKED | c/w linkage | nc/w linkage | current |
AD = autosomal dominant; + = positive forced duction testing for restriction; c/w linkage = consistent with linkage; nc/w li nkage = not consistent with linkage.