title: A rare case of congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation with Marcus Gunn jaw-winking phenomenon.
abstract: BACKGROUND
  Congenital fibrosis of the extraocular muscles (CFEOM1) is classically a congenital, non-progressive, restrictive strabismus syndrome characterized by bilateral ptosis and ophthalmoplegia with an infraducted position of the globes. This autosomal dominant syndrome is caused by mutations in the KIF21A gene.
  
  
  RESULTS
  In this report we describe a 5-year-old boy, and his mother, both of whom have a mutation in the KIF21A gene, who possesses typical features of CFEOM1 syndrome. Besides displaying typical features of CFEOM1, he demonstrated Marcus Gunn jaw-winking phenomenon. The patient additionally had a positive family history of such features.
  
  
  CONCLUSIONS
  This is first report of the coexistence of CFEOM and Marcus Gunn jaw-winking phenomenon in a patient with a KIF21A mutation from Turkey. We explain the phenotypic findings associated with mutations in KIF21A including CFEOM1A and Marcus Gunn jaw-winking phenomenon.
authors.affiliation: Department of Pediatrics, Division of Pediatric Neurology, Erciyes University, Faculty of Medicine, Kayseri, Turkey. Electronic address: draysebayram@gmail.com.
authors.forename: Ayşe
authors.initials: A
authors.lastname: Kaçar Bayram
authors.affiliation: Department of Pediatrics, Division of Pediatric Neurology, Erciyes University, Faculty of Medicine, Kayseri, Turkey. Electronic address: huseyinper@yahoo.com.
authors.forename: Hüseyin
authors.initials: H
authors.lastname: Per
authors.affiliation: Department of Neurosurgery, Yale School of Medicine, New Haven, USA; Department of Neurobiology, Yale School of Medicine, New Haven, USA; Department of Genetics, Yale School of Medicine, New Haven, USA. Electronic address: Jennifer.quon@yale.edu.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Quon
authors.affiliation: Department of Pediatrics, Division of Pediatric Neurology, Erciyes University, Faculty of Medicine, Kayseri, Turkey. Electronic address: drmehmetcanpolat@gmail.com.
authors.forename: Mehmet
authors.initials: M
authors.lastname: Canpolat
authors.affiliation: Department of Neurosurgery, Yale School of Medicine, New Haven, USA; Department of Neurobiology, Yale School of Medicine, New Haven, USA; Department of Genetics, Yale School of Medicine, New Haven, USA. Electronic address: egeulgen@gmail.com.
authors.forename: Ege
authors.initials: E
authors.lastname: Ülgen
authors.affiliation: Department of Ophthalmology, Erciyes University, Faculty of Medicine, Kayseri, Turkey. Electronic address: doganh@erciyes.edu.tr.
authors.forename: Hakkı
authors.initials: H
authors.lastname: Doğan
authors.affiliation: Department of Pediatrics, Division of Pediatric Neurology, Erciyes University, Faculty of Medicine, Kayseri, Turkey. Electronic address: hakgumus33@yahoo.com.
authors.forename: Hakan
authors.initials: H
authors.lastname: Gumus
authors.affiliation: Department of Pediatrics, Division of Pediatric Neurology, Erciyes University, Faculty of Medicine, Kayseri, Turkey. Electronic address: skumandas@hotmail.com.
authors.forename: Sefer
authors.initials: S
authors.lastname: Kumandas
authors.affiliation: Department of Ophthalmology, Research and Training Hospital, Kayseri, Turkey. Electronic address: drnbayram@gmail.com.
authors.forename: Nurettin
authors.initials: N
authors.lastname: Bayram
authors.affiliation: Department of Genetics and Yale Center for Genome Analysis, Yale School of Medicine, New Haven, USA. Electronic address: kaya.bilguvar@yale.edu.
authors.forename: Kaya
authors.initials: K
authors.lastname: Bilguvar
authors.affiliation: Department of Neurosurgery, Yale School of Medicine, New Haven, USA; Department of Neurobiology, Yale School of Medicine, New Haven, USA; Department of Genetics, Yale School of Medicine, New Haven, USA. Electronic address: okaycaglayan@yahoo.com.
authors.forename: Ahmet Okay
authors.initials: AO
authors.lastname: Çağlayan
mesh_terms: D000328:Adult; D001763:Blepharoptosis / Q000235:genetics* / Q000503:physiopathology*; D002675:Child, Preschool; D004247:DNA / Q000235:genetics; D059472:Exome / Q000235:genetics; D015785:Eye Diseases, Hereditary / Q000235:genetics / Q000503:physiopathology; D005260:Female; D005355:Fibrosis; D006330:Heart Defects, Congenital / Q000235:genetics* / Q000503:physiopathology*; D006801:Humans; D007569:Jaw Abnormalities / Q000235:genetics* / Q000503:physiopathology*; D016547:Kinesins / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics; D009422:Nervous System Diseases / Q000235:genetics* / Q000503:physiopathology*; D009886:Ophthalmoplegia; D010375:Pedigree; D010641:Phenotype; D012021:Reflex, Abnormal / Q000235:genetics*; D014421:Turkey; D000093922:Congenital Cranial Dysinnervation Disorders
chemical_list: C119023:KIF21A protein, human; D004247:DNA; D016547:Kinesins
keywords: CFEOM1; KIF21A; Marcus Gunn jaw-winking phenomenon