LETTER TO JMG

Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes

P Aubourg¹, M Krahn^1,2, R Bernard^1,2, K Nguyen², O Forzano³, I Boccaccio¹, V Delague¹, A De Sandre-Giovannoli¹, J Pouget⁴, D Depétris¹, M-G Mattei¹, N Philip^1,2, N Lévy^1,2

¹ Inserm U491: "Genetique Medicale et Developpement", Faculte de Medecine de Marseille, IFR 125, 13385 Marseille cedex 05, France
² Departement de Genetique Medicale, Hopital d’Enfants de la Timone, IFR 125, 13385 Marseille cedex 05, France
³ Service d’Ophtalmologie, Hopital de la Timone, Marseille, France
⁴ Service des Maladies Neuromusculaires, Hopital de la Timone, Marseille, France

Correspondence to:
Correspondence to:
Dr N Levy
INSERM U491 "Genetique Medicale et Developpement", Faculté de Médecine de Marseille, 13385 Marseille cedex 05, France; nicolas.levy@medecine.univ-mrs.fr

Received 21 April 2004

Accepted 20 May 2004

Keywords: CFEOM; ophthalmoplegia; FEOM; translocation breakpoint; extra ocular muscles

The first 150 words of the full text of this article appear below.

A small group of neuromuscular disorders appears to specifically target the innervation and development of the extra ocular muscles, resulting in congenital non-progressive ophthalmoplegia and ptosis. These clinically and genetically heterogeneous disorders are classified as congenital cranial dysinnervation disorders (CCDDs)¹ and include Duane’s syndrome (OMIM 126800 and 604356), Moebius syndrome (OMIM 157900), congenital fibrosis of the extraocular muscles (CFEOM) (OMIM 135700, 602078, and 600638), and congenital ptosis (OMIM 300245 and 178300). The extraocular fibrosis syndromes are congenital ocular motility disorders that arise from dysfunction of the oculomotor, trochlear, and abducens nerves, and/or the muscles they innervate. Each is characterised by a specific form of restrictive paralytic ophthalmoplegia, in most cases associated with ptosis. Individuals with the classic form of congenital fibrosis of the extraocular muscles are born with bilateral ptosis and a restrictive infraductive external ophthalmoplegia, with the inability to raise either eye above the midline. In the . . . [Full text of this article]

CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

This article has been cited by other articles:

• Engle, E. C. (2007). Genetic Basis of Congenital Strabismus. Arch Ophthalmol 125: 189-195 [Abstract] [Full Text]