title: [Clinical and genetic analysis of a patient with Treacher Collins syndrome in TCOF1 gene].
abstract: OBJECTIVE
  To analyze the clinical and genetic features of a patient with Treacher Collins syndrome (TCS), and identify the mutation in TCOF1 gene.
  
  
  METHODS
  The medical history was taken, and general physical examinations and otological examinations were conducted in this patient. Genomic DNA was extracted from this patient and his parents and complete TCOF1 gene coding exons were amplified by specific PCR primers. Direct sequencing was carried out to identify the mutations. The raw data was analyzed with GeneTool software and molecular biological website.
  
  
  RESULTS
  We detected a heterozygous c. 1639 delAG mutation in exon 11 of TCOF1, which resulted in a truncated protein lacking normal function. This mutation is a novel mutation and the second case identified in exon 11 of in TCS.
  
  
  CONCLUSIONS
  TCS patient reported in this study has unique clinical phenotype. TCOF1 gene mutation is the specific risk factor.
authors.affiliation: Department of Otolaryngology-Head and Neck Surgery, Chinese PLA General Hospital, Institute of Otolaryngology, Beijing, 223301, China.
authors.forename: Hongbo
authors.initials: H
authors.lastname: Li
authors.forename: Xu
authors.initials: X
authors.lastname: Zhang
authors.forename: Zhenyue
authors.initials: Z
authors.lastname: Li
authors.forename: Jing
authors.initials: J
authors.lastname: Chen
authors.forename: Yu
authors.initials: Y
authors.lastname: Lu
authors.forename: Jingjie
authors.initials: J
authors.lastname: Jia
authors.forename: Huijun
authors.initials: H
authors.lastname: Yuan
authors.forename: Dongyi
authors.initials: D
authors.lastname: Han
mesh_terms: D017931:DNA Primers; D005091:Exons; D005809:Genes, Regulator; D005820:Genetic Testing; D006801:Humans; D008342:Mandibulofacial Dysostosis / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010641:Phenotype; D010750:Phosphoproteins / Q000235:genetics*; D013577:Syndrome
chemical_list: D017931:DNA Primers; D009687:Nuclear Proteins; D010750:Phosphoproteins; C105442:TCOF1 protein, human