Abstract
Congenital external ophthalmoplegia (CFEOM) is an uncommon autosomal dominant condition that has previously been mapped to the pericentromeric region of chromosome 12 in seven families with no evidence of locus heterogeneity. We report three families with typical CFEOM. One family does not map to this region of chromosome 12 or to other chromosomal locations implicated in disorders of lid or ocular movement. Recombinants in two CFEOM families potentially help to reduce the size of the candidate region on chromosome 12.
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- Apt L., Axelrod R. N. Generalized fibrosis of the extraocular muscles. Am J Ophthalmol. 1978 Jun;85(6):822–829. doi: 10.1016/s0002-9394(14)78112-7. [DOI] [PubMed] [Google Scholar]
- Brodsky M. C., Pollock S. C., Buckley E. G. Neural misdirection in congenital ocular fibrosis syndrome: implications and pathogenesis. J Pediatr Ophthalmol Strabismus. 1989 Jul-Aug;26(4):159–161. doi: 10.3928/0191-3913-19890701-03. [DOI] [PubMed] [Google Scholar]
- Engle E. C., Castro A. E., Macy M. E., Knoll J. H., Beggs A. H. A gene for isolated congenital ptosis maps to a 3-cM region within 1p32-p34.1. Am J Hum Genet. 1997 May;60(5):1150–1157. [PMC free article] [PubMed] [Google Scholar]
- Engle E. C., Kunkel L. M., Specht L. A., Beggs A. H. Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. Nat Genet. 1994 May;7(1):69–73. doi: 10.1038/ng0594-69. [DOI] [PubMed] [Google Scholar]
- Engle E. C., Marondel I., Houtman W. A., de Vries B., Loewenstein A., Lazar M., Ward D. C., Kucherlapati R., Beggs A. H. Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12. Am J Hum Genet. 1995 Nov;57(5):1086–1094. [PMC free article] [PubMed] [Google Scholar]
- LAUGHLIN R. C. Congenital fibrosis of the extraocular muscles; a report of six cases. Am J Ophthalmol. 1956 Mar;41(3):432–438. doi: 10.1016/0002-9394(56)91259-4. [DOI] [PubMed] [Google Scholar]
- McPherson E., Robertson C., Cammarano A., Hall J. G. Dominantly inherited ptosis, strabismus and ectopic pupils. Clin Genet. 1976 Jul;10(1):21–26. doi: 10.1111/j.1399-0004.1976.tb00004.x. [DOI] [PubMed] [Google Scholar]
- Wang S. M., Zwaan J., Mullaney P. B., Jabak M. H., Al-Awad A., Beggs A. H., Engle E. C. Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13. Am J Hum Genet. 1998 Aug;63(2):517–525. doi: 10.1086/301980. [DOI] [PMC free article] [PubMed] [Google Scholar]