title: [R954 mutations in KIF21A gene in Chinese patients with congenital fibrosis of extraocular muscles].
abstract: OBJECTIVE
  Screening KIF21A gene mutation in 9 families with congenital fibrosis of extraocular muscles and 7 sporadic cases.
  
  
  METHODS
  Families were ascertained and patients underwent complete ophthalmological examinations. The probands of 9 families with CFEOM and 7 sporadic patients were recruited for this study after informed consent. Genomic DNA was isolated from 5 ml peripheral blood samples according to the standard methods. Direct sequencing was performed after PCR amplification to genomic DNA for detection of KIF21A gene mutation.
  
  
  RESULTS
  We identified heterozygous KIF21A mutations in 14 of sixteen patients. Twelve of them harbor the most common mutation, c.2860C > T (p.R954W) and two of them harbor the second most common mutation, c2861G > A(p.R954Q). The R954 mutations account for 87.5% (14/16), in which 75% (12/16) are R954W, 12.5% (2/16) are R954Q.
  
  
  CONCLUSIONS
  The R954 mutations are also hotspots in Chinese patients with CFEOM.
authors: Ophthalmic College of Tianjin Medical University, Tianjin Eye Hospital, Tianjin Eye Institute, Tianjin Key Lab of Ophthalmology and Visual Science, Tianjin 300020, China.
authors: Ning-dong
authors: ND
authors: Li
authors: Jun
authors: J
authors: Zhao
authors: Li-ming
authors: LM
authors: Wang
authors: Xia
authors: X
authors: Chen
authors: Hui-zhi
authors: HZ
authors: Ma
authors: Li-na
authors: LN
authors: Zhu
authors: Xin
authors: X
authors: Guo
authors: Kan-xing
authors: KX
authors: Zhao
mesh_terms: D005091:Exons; D005260:Female; D005355:Fibrosis; D006801:Humans; D016547:Kinesins / Q000235:genetics*; D008297:Male; D009154:Mutation; D015835:Ocular Motility Disorders / Q000151:congenital / Q000235:genetics* / Q000473:pathology*; D009801:Oculomotor Muscles / Q000473:pathology; D010375:Pedigree
chemical_list: C119023:KIF21A protein, human; D016547:Kinesins