Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A
نویسندگان
چکیده
منابع مشابه
Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A.
Congenital fibrosis of the extraocular muscles type 2 (CFEOM2) is a complex strabismus syndrome that results from mutations in the homeodomain transcription factor PHOX2A. To define the clinical and neuroimaging features of patients with this autosomal recessive syndrome, we studied 15 patients with genetically defined CFEOM2. All patients underwent full neurological, neuro-ophthalmological and...
متن کاملNovel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3.
OBJECTIVE To characterize the disease-causing mutations and associated clinical phenotypes in 5 Chinese families with congenital fibrosis of the extraocular muscles (CFEOM). METHODS Ophthalmic investigations included visual acuity, levator function, documentation of compensatory head position, ocular motility, and slitlamp and fundus examinations. The kinesin family member 21A gene (KIF21A) w...
متن کاملKIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM)
PURPOSE Two Chinese families (XT and YT) with congenital fibrosis of the extraocular muscles (CFEOM) were identified. The purpose of this study was to determine if previously described Homo sapiens kinesin family member 21A (KIF21A) mutations were responsible for CFEOM in these two Chinese pedigrees. METHODS Clinical characterization and genetic studies were performed. Microsatellite genotypi...
متن کاملLack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families
PURPOSE Congenital fibrosis of the extraocular muscles type I (CFEOM1), the most common CFEOM worldwide, is characterized by bilateral ptotic hypotropia, an inability to supraduct above the horizontal midline, horizontal strabismus (typically exotropia), and ophthalmoplegia with abnormal synkinesis. This distinct non-syndromic phenotype is considered autosomal dominant and is virtually always f...
متن کاملIdentification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3).
PURPOSE Three congenital fibrosis of the extraocular muscles phenotypes (CFEOM1-3) have been identified. Each represents a specific form of paralytic strabismus characterized by congenital restrictive ophthalmoplegia, often with accompanying ptosis. It has been demonstrated that CFEOM1 results from mutations in KIF21A and CFEOM2 from mutations in PHOX2A. This study was conducted to determine th...
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ژورنال
عنوان ژورنال: Brain
سال: 2006
ISSN: 0006-8950,1460-2156
DOI: 10.1093/brain/awl161