title: Treacher Collins Syndrome: the genetics of a craniofacial disease.
abstract: OBJECTIVE
  The molecular underpinnings of Treacher Collins Syndrome (TCS) are diverse. This article codifies the most recent findings in this complex area of research to further current understanding of the disease process. Elucidating the genetic causes of the disorder can be useful in earlier detection and better treatment planning.
  
  
  METHODS
  Articles from 1991 to 2013 were selected and reviewed by five researchers utilizing the most recent literature of the genetics and pathophysiology of TCS.
  
  
  RESULTS
  Mutations in TCOF1, POLR1C and POLR1D have all been implicated in causing TCS. The association of the TCOF1 gene product, Treacle, and gene products of POLR1C and POLR1D with ribosome biosynthesis suggests that a loss of function mutation in these genes disrupts ribosome biosynthesis in constituent neural crest cells and neuroepithelium leading to apoptosis. However, recent data illustrating that P53 heterozygosity is protective against TCS, and that P53 and TCOF1 hemizygous embryos do not affect ribosomal function, implicates P53 or elements downstream of P53 as playing a role in TCS pathogenesis.
  
  
  CONCLUSIONS
  Our study codified nascent findings of the molecular determinants of TCS. These findings add to a burgeoning database of TCS-associated mutations, and as such, can be used to establish TCS diagnosis and further clarify TCS pathogenesis.
authors.affiliation: Department of Otolaryngology/Head and Neck Surgery, New York Eye and Ear Infirmary, New York, NY, United States. Electronic address: skadakia@nyee.edu.
authors.forename: Sameep
authors.initials: S
authors.lastname: Kadakia
authors.affiliation: Albert Einstein College of Medicine, Bronx, NY, United States.
authors.forename: Samuel N
authors.initials: SN
authors.lastname: Helman
authors.affiliation: Albert Einstein College of Medicine, Bronx, NY, United States.
authors.forename: Arvind K
authors.initials: AK
authors.lastname: Badhey
authors.affiliation: Department of Otolaryngology/Head and Neck Surgery, New York Eye and Ear Infirmary, New York, NY, United States.
authors.forename: Masoud
authors.initials: M
authors.lastname: Saman
authors.affiliation: Department of Facial Plastic and Reconstructive Surgery, University of Texas Southwestern Medical Center, Dallas, TX, United States.
authors.forename: Yadranko
authors.initials: Y
authors.lastname: Ducic
mesh_terms: D000818:Animals; D012321:DNA-Directed RNA Polymerases / Q000235:genetics; D006801:Humans; D008342:Mandibulofacial Dysostosis / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics; D010750:Phosphoproteins / Q000235:genetics
chemical_list: D009687:Nuclear Proteins; D010750:Phosphoproteins; C105442:TCOF1 protein, human; D012321:DNA-Directed RNA Polymerases; C569283:POLR1C protein, human; C569282:POLR1D protein, human
keywords: Craniofacial; POLR1C; POLR1D; TCOF1; Treacher Collins