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

Aubourg, Patrick

doi:10.1136/jmg.2004.021899

Cited by 26 publications

(4 citation statements)

References 27 publications

(13 reference statements)

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“…One mutation-negative pedigree exhibits the phenotype of CFEOM3 and has a translocation that implicates a locus on chromosome 13q12 (FEOM4) as the source of pathogenesis. 60 Additional autosomal recessive forms of CFEOM also appear to exist. A consanguineous Turkish family with autosomal recessive transmission of a unilateral, non-progressive ophthalmoplegia and hand abnormalities mapped to chromosome 21; 61 however, forced ductions were reportedly normal in this family, suggesting an atypical presentation for a CFEOM.…”

Section: Methodsmentioning

confidence: 99%

The Genetic Basis of Incomitant Strabismus: Consolidation of the Current Knowledge of the Genetic Foundations of Disease

Graeber

Hunter

Engle

2013

Seminars in Ophthalmology

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In recent years, our understanding of the genetic foundations of incomitant strabismus has grown significantly. Much new understanding has been gleaned since the concept of congenital cranial dysinnervation disorders (CCDDs) was introduced in 2002, and the genetic basis of CCDDs continues to be elucidated. In this review, we aim to provide an update of the genetic and clinical presentation of these disorders. Disorders reviewed include Duane syndrome (DS), HOXA1 and HOXB1 syndromes, Moebius syndrome, congenital fibrosis of the extraocular muscles (CFEOM), and horizontal gaze palsy with progressive scoliosis (HGPPS).

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Section: Methodsmentioning

confidence: 99%

The Genetic Basis of Incomitant Strabismus: Consolidation of the Current Knowledge of the Genetic Foundations of Disease

Graeber

Hunter

Engle

2013

Seminars in Ophthalmology

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“…Dengeli translokasyon olduğu halde hastalığın gelişmesi, kromozomun kırılma noktasına yakın bölgedeki hasarlı genlere bağlı olabileceği düşünülmüştür. 28 …”

Section: Keokfunclassified

Konjenital Ekstraoküler Kas Fibrozisi

Niyaz¹,

Can²

2014

tjo

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Konjenital ekstraoküler kas fibrozisi (KEOKF) nadir görülen kalıtsal ve ilerleyici olmayan restriktif şaşılık ve kapak pitozu ile karakterize bir durumdur. Olguların çoğu iki taraflı ve izole olmasına rağmen bazı olgularda sistemik bulgular eşlik etmektedir. Klinik görünüm olarak KEOKF üç gruba ayrılmaktadır: KEOKF 1, 2 ve 3. Başlıca sorumlu genler KEOKF tip 1 ve 3 için KIF21A ve KEOKF tip 2 için PHOX2A/ARIX genleridir. Çalışmalar, kas fibrozisine ekstraoküler kasların anormal innervasyonunun neden olduğunu göstermektedir. ÖzetCongenital fibrosis of the extraocular muscles (CFEOM) is a rare disorder characterized by hereditary non-progressive restrictive strabismus and blepharoptosis. Although most of the cases are bilateral and isolated, some patients may have systemic findings. CFEOM is divided into three groups as CFEOM 1, 2, and 3 according to the phenotype. Primary responsible genes are KIF21A for CFEOM type 1 and 3 and PHOX2A/ARIX gene for CFEOM type 2. Studies suggest that abnormal innervation of the extraocular muscles is the cause of muscle fibrosis. Early treatment is important because of the risk of amblyopia. Surgery is the primary treatment option for strabismus and blepharoptosis. (Turk J Ophthalmol 2014; 44: 312-5)

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“…A CFEOM3C variant (MIM %609384) has been recognized in three generations of a single family where all affected members carry a reciprocal translocation involving chromosomes 2q and 13q. [27]…”

Section: Disorders Affecting Predominantly Ocular Motilitymentioning

confidence: 99%

Recent Progress in Understanding Congenital Cranial Dysinnervation Disorders

Oystreck¹,

Engle²,

Bosley³

2011

Journal of Neuro-Ophthalmology

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Background In 2002 the new term congenital cranial dysinnervation disorder (CCDD) was proposed as a substitute for the traditional concept of congenital fibrosis of the extraocular muscles based on mounting genetic, neuropathology, and imaging evidence suggesting that many, if not all, of these disorders result from a primary neurologic maldevelopment rather than from a muscle abnormality. This report provides an update eight years after that original report. Evidence acquisition Review of pertinent articles published from Jan 2003 until June 2010 describing CCDD variants identified under PubMed MeSH terms congenital fibrosis of the extraocular muscles, congenital cranial dysinnervation disorders, individual phenotypes included under the term CCDD, and congenital ocular motility disorders. Results At present a total of seven disease genes and 10 phenotypes fall under the CCDD umbrella. A number of additional loci and phenotypes still await gene elucidation, with the anticipation that more syndromes and genes will be identified in the future. Identification of genes and their function, along with advances in neuro-imaging, have expanded our understanding of the mechanisms underlying several anomalous eye movement patterns. Conclusions Current evidence still supports the concept that the CCDDs are primarily due to neurogenic disturbances of brainstem or cranial nerve development. Several CCDDs are now known to have non-ophthalmologic associations involving neurologic, neuroanatomic, cerebrovascular, cardiovascular, and skeletal abnormalities.

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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

Cited by 26 publications

References 27 publications

The Genetic Basis of Incomitant Strabismus: Consolidation of the Current Knowledge of the Genetic Foundations of Disease

The Genetic Basis of Incomitant Strabismus: Consolidation of the Current Knowledge of the Genetic Foundations of Disease

Konjenital Ekstraoküler Kas Fibrozisi

Recent Progress in Understanding Congenital Cranial Dysinnervation Disorders

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