TITLE

Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus

AUTHOR(S)
Mackey, David A.; Chan, Wai-Man; Chan, Christopher; Gillies, W.; Brooks, Anne M.; O'Day, Justin; Engle, Elizabeth C.
PUB. DATE
May 2002
SOURCE
Human Genetics;May2002, Vol. 110 Issue 5, p510
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
The diagnosis of congenital fibrosis of the extraocular muscles (CFEOM) encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. The OMIM database (http://www.ncbi.nlm.nih.gov/Omim/) currently contains four familial CFEOM phenotypes: CFEOM1–3, which map to the FEOM1–3 loci (MIM 135600, 602078, 604361), respectively, and congenital fibrosis of the vertically acting extraocular muscles (MIM 600638), reported in a single family without a corresponding genotype. We have had the opportunity to study the reported family with this fourth phenotype and now demonstrate that their phenotype can be reclassified as CFEOM3 and that it maps to FEOM3, flanked by D16S498 to 16qter, with a maximum lod score of 6.0.
ACCESSION #
16115377

 

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