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Lookup NU author(s): Lynne Overman
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Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is a rare inherited strabismus syndrome characterized by non-progressive ophthalmoplegia. We previously identified that CFEOM1 results from heterozygous missense mutations in KIF21A, which encodes a kinesin motor protein. Here we evaluate the expression pattern of KIF21A in human brain and muscles of control and CFEOM1 patients, and during human and mouse embryonic development. KIF21A is expressed in the cell bodies, axons, and dendrites of many neuronal populations including those in the hippocampus, cerebral cortex, cerebellum, striatum, and motor neurons of the oculomotor, trochlear, and abducens nuclei from early development into maturity, and its spatial distribution is not altered in the CFEOM1 tissues available for study. Multiple splice isoforms of KIF21A are identified in human fetal brain, but none of the reported CFEOM1 mutations are located in or near the alternatively spliced exons. KIF21A immunoreactivity is also observed in extraocular and skeletal muscle biopsies of control and CFEOM1 patients, where it co-localizes with triadin, a marker of the excitation–contractile coupling system. The diffuse and widespread expression of KIF21A in the developing human and mouse central and peripheral nervous system as well as in extraocular muscle does not account for the restricted ocular phenotype observed in CFEOM1, nor does it permit the formal exclusion of a myogenic etiology based on expression patterns alone.
Author(s): Desai J, Velo MPR, Yamada K, Overman LM, Engle EC
Publication type: Article
Publication status: Published
Journal: Gene Expression Patterns
Year: 2012
Volume: 12
Issue: 5-6
Pages: 180-188
Print publication date: 01/05/2012
ISSN (print): 1567-133X
ISSN (electronic): 1872-7298
Publisher: Elsevier BV
URL: http://dx.doi.org/10.1016/j.gep.2012.03.003
DOI: 10.1016/j.gep.2012.03.003
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