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

Mackey, David A.; Chan, Wai-Man; Chan, Christopher; Gillies, W.; Brooks, Anne M.; O'Day, Justin; Engle, Elizabeth C.
May 2002
Human Genetics;May2002, Vol. 110 Issue 5, p510
Academic Journal
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 600638), 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.


Related Articles

  • Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balance translocation (2;13) (q37.3;q12.11) and identification of candidate genes. Aubourg, P.; Krahn, M.; Bernard, R.; Nguyen, K.; Forzano, O.; Boccaccio, I.; Delague, V.; Desandre-Giovannoli, A.; Pouget, J.; Depétris, D.; Mattei, M.-G.; Philip, N.; Lévy, N. // Journal of Medical Genetics;Mar2005, Vol. 42 Issue 3, p253 

    Reports on the assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus. Characterization of congenital cranial dysinnervation disorders by ophthalmoplegia and ptosis; Exploration of three generation family in which members are affected with autosomal dominant CFEOM3;...

  • A Case Study: Management Options for a Patient with Congenital Fibrosis of the Extraocular Muscles. Vogrin, Frances; Zhang, Kailin Karen // Australian Orthoptic Journal;2012, Vol. 44 Issue 1, p16 

    Congenital fibrosis of the extraocular muscles is a relatively static congenital disorder leading to restrictive extraocular movements. The need for early intervention is vital to alleviate the development of an abnormal head posture and to lower the risk of amblyopia. A case of an 18-year-old...

  • A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21 qter. Tukel, T.; Uzumcu, A.; Gezer, A.; Kayserili, H.; Apak, M. Yuksel; Uyguner, O.; Gultekin, S. H.; Hennies, H.-C.; Nurnberg, P.; Desnick, R. J.; Wollnik, B. // Journal of Medical Genetics;May2005, Vol. 42 Issue 5, p408 

    Background: Congenital fibrosis of the extraocular muscles (CFEOM) is a heterogeneous group of disorders that may be associated with other anomalies. The association of a CFEOM syndrome with ulnar hand abnormalities (CFEOM/U) has not been reported to date. Objective: To describe a new autosomal...

  • Cystic fibrosis: addressing the transition from pediatric to adult-oriented health care. Kreindler, James L.; Miller, Victoria A. // Patient Preference & Adherence;2013, Vol. 7, p1221 

    Survival for patients with cystic fibrosis (CF) increased to nearly 40 years in 2012 from the early childhood years in the 1940s. Therefore, patients are living long enough to require transition from pediatric CF centers to adult CF centers. The goal of transition is for the young adult to be...

  • Clinical, pathological, and genetic features of dynamin-2-related centronuclear myopathy in China. Chen, Ting; Pu, Chuanqiang; Wang, Qian; Liu, Jiexiao; Mao, Yanling; Shi, Qiang // Neurological Sciences;May2015, Vol. 36 Issue 5, p735 

    Mutations in the dynamin-2 ( DNM2) gene can cause autosomal dominant or sporadic centronuclear myopathy (CNM). We aimed to analyze the clinical, pathological and genetic characteristic of patients with DNM2-related CNM in China. We studied seven patients, all of whom underwent clinical...

  • Acute Fourth Nerve Paresis. Nelson, Leonard B. // Journal of Pediatric Ophthalmology & Strabismus;Nov2012, Vol. 49 Issue 6, p1 

    The article offers information on acute fourth nerve paresis. According to the author, as of November 2012, it is the most frequent cause of acquired vertical diplopia. It notes that most cases of acute fourth nerve paresis have a benign etiology. The author states that decompensation of...

  • Clinical phenotype of cystic fibrosis patients with the G551D mutation. COMER, D. M.; ENNIS, M.; MCDOWELL, C.; BEATTIE, D.; RENDALL, J.; HALL, V.; ELBORN, J. S. // QJM: An International Journal of Medicine;Nov2009, Vol. 102 Issue 11, p793 

    Background: Data on whether the phenotype of cystic fibrosis (CF) patients with compound heterozygocity for G551D (Gly551Asp) differs from patients with F508del (Phe508del) homozygous mutations is divergent.

  • Lund-Mackay Staging System in Cystic Fibrosis: A Prognostic Factor for Revision Surgery? Carter, John M.; Johnson, Bradley T.; Patel, Amit; Palacios, Enrique; Rodriguez, Kimsey H. // Ochsner Journal;Summer2014, Vol. 14 Issue 2, p184 

    Background: Cystic fibrosis (CF) is an autosomal recessive genetic disease that affects approximately 30,000 people in the United States. Mucus in CF patients can be exceptionally viscous, leading to progressive cycles of inflammation and infection. The most widely accepted staging system used...

  • Association of tumour necrosis factor alpha variants with the CF pulmonary phenotype. Yarden, J.; Radojkovic, D.; De Boeck, K.; Macek Jr., M.; Zemkova, D.; Vavrova, V.; Vlietinck, R.; Cassiman, J.-J.; Cuppens, H. // Thorax;Apr2005, Vol. 60 Issue 4, p320 

    Background: The pulmonary phenotype in patients with cystic fibrosis (CF), even in those with the same CF transmembrane conductance regulator (CFTR) genotype, is variable and must therefore be influenced by secondary genetic factors as well as environmental factors. Possible candidate genes that...


Read the Article


Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics