title: KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3.
abstract: OBJECTIVE
  To determine, in Taiwanese patients, the genetic basis of congenital fibrosis of the extraocular muscles (CFEOM) type 1 and 3, a group of diseases characterized by congenital restrictive ophthalmoplegia affecting muscles innervated by the oculomotor nerve.
  
  
  METHODS
  Linkage analysis with microsatellite markers at chromosome 12q and direct sequence analysis of the KIF21A gene were performed on three families and one sporadic CFEOM case.
  
  
  RESULTS
  Two of the families were classified by clinical criteria as CFEOM1 and another family as CFEOM3. All three families were shown to be linked to the 12q CFEOM1 locus. Sequence analysis disclosed a heterozygous c.2860C>T mutation in the KIF21A gene in all families and in the sporadic case. Affected family members were further confirmed by a BsrDI polymorphism.
  
  
  CONCLUSIONS
  CFEOM is present in Chinese populations. Both CFEOM1 and CFEOM3 can be caused by the same mutation at the KIF21A gene. The occurrence of this mutation in different ethnic groups suggests a mutation hot spot.
authors.affiliation: Department of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan.
authors.forename: Long-Kuang
authors.initials: LK
authors.lastname: Lin
authors.forename: Yin-Hsiu
authors.initials: YH
authors.lastname: Chien
authors.forename: Jer-Yuarn
authors.initials: JY
authors.lastname: Wu
authors.forename: Ai-Hou
authors.initials: AH
authors.lastname: Wang
authors.forename: Shu-Chuan
authors.initials: SC
authors.lastname: Chiang
authors.forename: Wuh-Liang
authors.initials: WL
authors.lastname: Hwu
mesh_terms: D044466:Asian People / Q000208:ethnology; D001483:Base Sequence; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005355:Fibrosis / Q000151:congenital; D008040:Genetic Linkage; D006801:Humans; D016547:Kinesins / Q000235:genetics*; D008297:Male; D018895:Microsatellite Repeats; D008969:Molecular Sequence Data; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009801:Oculomotor Muscles / Q000294:innervation / Q000473:pathology*; D009802:Oculomotor Nerve / Q000473:pathology; D017246:Ophthalmoplegia, Chronic Progressive External / Q000208:ethnology / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D013624:Taiwan / Q000453:epidemiology
chemical_list: C119023:KIF21A protein, human; D009419:Nerve Tissue Proteins; D016547:Kinesins