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Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus
journal contributionposted on 2023-05-16, 20:37 authored by David MackeyDavid Mackey, Chan, W, Chan, C, Gillies, WE, Brooks, AMV, O'Day, J, Engle, EC
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 60063), 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. Â© Springer-Verlag 2002.
Publication titleHuman Genetics
Department/SchoolMenzies Institute for Medical Research
Place of publication175 Fifth Ave, New York, USA, Ny, 10010