Treacher Collins syndrome (TCS): genetics and pathology

Evidence-based neurology checklist on treacher collins syndrome (tcs): genetics and pathology: Genetics This is usually caused by mutations in the TCOF1 gene on chromosome 5q The gene encodes treacle: this is a nucleolar phosphoprotein 60% of the mutations are spontaneous Mutations in the POLR1D…

Genetics

  • This is usually caused by mutations in the TCOF1 gene on chromosome 5q
  • The gene encodes treacle: this is a nucleolar phosphoprotein
  • 60% of the mutations are spontaneous
  • Mutations in the POLR1D and POLR1C genes are also causative
  • The transmission is autosomal dominant

Pathology

Synonyms

References

  1. Trainor PA, Dixon J, Dixon MJ. Treacher Collins syndrome: etiology, pathogenesis and prevention. Eur J Hum Genet 2009; 17:275-283.
  2. Vincent M, Geneviève D, Ostertag A, et al. Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. Genet Med 2016; 18:49-56.
  3. Sakai D, Trainor PA. Treacher Collins syndrome: unmasking the role of Tcof1/treacle. Int J Biochem Cell Biol 2009; 41:1229-1232.
  4. Jones NC, Lynn ML, Gaudenz K, et al. Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function. Nat Med 2008; 14:125-133.
  5. Schaefer E, Collet C, Genevieve D, et al. Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome. Genet Med 2014; 16:720-724.
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