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

Citation

Mackey, DA and Chan, W and Chan, C and Gillies, WE and Brooks, AMV and O'Day, J and Engle, EC, Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus, Human Genetics, 110, (5) pp. 510-512. ISSN 0340-6717 (2002) [Refereed Article]

DOI: doi:10.1007/s00439-002-0707-5

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 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. © Springer-Verlag 2002.

Item Details

Item Type:Refereed Article
Research Division:Medical and Health Sciences
Research Group:Ophthalmology and Optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical Health (Organs, Diseases and Abnormal Conditions)
Objective Field:Hearing, Vision, Speech and Their Disorders
Author:Mackey, DA (Professor David Mackey)
ID Code:49056
Year Published:2002
Web of Science® Times Cited:29
Deposited By:Menzies Institute for Medical Research
Deposited On:2007-08-01
Last Modified:2011-10-07
Downloads:0

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