CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX

Table 1 Summary of the genetic analysis of CFEOM1 pedigrees

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.

ISSN: 2730-6844