title: [The gene mutation screening of a family with congenital fibrosis of the extraocular muscles associated with corpus callosum agenesis].
abstract: OBJECTIVE
  To identify TUBB3 gene mutations in a Chinese family with congenital fibrosis of the extraocular muscle associated with corpus callosum agenesis.
  
  
  METHODS
  We have found a family with CFEOM associated with corpus callosum agenesis, including 4 affected individuals in three generations of 11 familial members. 4 affected individuals were sequenced by direct TUBB3 sequencing, 4 unaffected individuals in the family and 100 cases of unrelated normal person as a control.
  
  
  RESULTS
  This family is in line with Mendelian autosomal dominant inheritance. Clinical manifestations belongs to CFEOM3. All affected individuals were detected with TUBB3 c.1249G > A mutation, the mutation is in exon 4, resulting in wild-type gene encoding the Aspartic acid ( Asp or D ) replaced .by Asparagine (Asn or N ).
  
  
  CONCLUSIONS
  Our study supports that TUBB3 gene mutation c.1249G > A (p. Asp417Asn), is the underlying molecular pathogenesis of this family with CFEOM3.
authors.affiliation: Department of Ophthalmology, Renmin Hospital of Wuhan University, Wuhan 430060, China.
authors.forename: Jun-tao
authors.initials: JT
authors.lastname: Zhang
authors.forename: Lian-hong
authors.initials: LH
authors.lastname: Zhou
authors.forename: Yun-fei
authors.initials: YF
authors.lastname: Zha
authors.forename: Tian
authors.initials: T
authors.lastname: Liu
authors.forename: Ming-xing
authors.initials: MX
authors.lastname: Tian
authors.forename: Jing
authors.initials: J
authors.lastname: Yuan
authors.forename: Yi-qiao
authors.initials: YQ
authors.lastname: Xing
mesh_terms: D000293:Adolescent; D000328:Adult; D061085:Agenesis of Corpus Callosum / Q000150:complications / Q000235:genetics*; D016022:Case-Control Studies; D015785:Eye Diseases, Hereditary / Q000150:complications / Q000235:genetics; D005260:Female; D005355:Fibrosis; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009801:Oculomotor Muscles / Q000473:pathology*; D009886:Ophthalmoplegia; D010375:Pedigree; D014404:Tubulin / Q000235:genetics*; D055815:Young Adult; D000093922:Congenital Cranial Dysinnervation Disorders
chemical_list: C498585:TUBB3 protein, human; D014404:Tubulin