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Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2
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Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2
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Journal Article
Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2
2001
Overview
Isolated strabismus affects 1–5% of the general population
1
. Most forms of strabismus are multifactorial in origin; although there is probably an inherited component, the genetics of these disorders remain unclear. The congenital fibrosis syndromes (CFS) represent a subset of monogenic isolated strabismic disorders that are characterized by restrictive ophthalmoplegia, and include congenital fibrosis of the extraocular muscles (CFEOM) and Duane syndrome (DURS)
2
. Neuropathologic studies indicate that these disorders may result from the maldevelopment of the oculomotor (nIII), trochlear (nIV) and abducens (nVI) cranial nerve nuclei
3
,
4
,
5
. To date, five CFS loci have been mapped (
FEOM1, FEOM2, FEOM3
,
DURS1 and DURS2
)
6
,
7
,
8
,
9
,
10
, but no genes have been identified. Here, we report three mutations in
ARIX
(also known as
PHOX2A
) in four CFEOM2 pedigrees.
ARIX
encodes a homeodomain transcription factor protein previously shown to be required for nIII/nIV development in mouse and zebrafish
11
,
12
. Two of the mutations are predicted to disrupt splicing, whereas the third alters an amino acid within the conserved brachyury-like domain
13
,
14
. These findings confirm the hypothesis that CFEOM2 results from the abnormal development of nIII/nIV (ref.
7
) and emphasize a critical role for
ARIX
in the development of these midbrain motor nuclei
13
,
14
,
15
,
16
,
17
,
18
,
19
.
Publisher
Nature Publishing Group US,Nature Publishing Group
Subject
/ Animal Genetics and Genomics
/ Biological and medical sciences
/ Biomedical and Life Sciences
/ Complications and side effects
/ congenital fibrosis of the extraocular muscles
/ congenital fibrosis syndrome
/ Duane Retraction Syndrome - genetics
/ Eye Abnormalities - genetics
/ Female
/ Fibrosis
/ Fundamental and applied biological sciences. Psychology
/ Genes
/ Genetics
/ Homeodomain Proteins - genetics
/ Humans
/ letter
/ Male
/ Molecular and cellular biology
/ Muscles
/ Mutation
/ Pedigree
/ Polymorphism, Genetic - genetics
/ Reverse Transcriptase Polymerase Chain Reaction
