Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

Nat Genet. 2011 Jan;43(1):20-2. doi: 10.1038/ng.724. Epub 2010 Dec 5.


We identified a deletion of a gene encoding a subunit of RNA polymerases I and III, POLR1D, in an individual with Treacher Collins syndrome (TCS). Subsequently, we detected 20 additional heterozygous mutations of POLR1D in 252 individuals with TCS. Furthermore, we discovered mutations in both alleles of POLR1C in three individuals with TCS. These findings identify two additional genes involved in TCS, confirm the genetic heterogeneity of TCS and support the hypothesis that TCS is a ribosomopathy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alleles
  • Child
  • Child, Preschool
  • Female
  • Genetic Heterogeneity
  • Humans
  • Male
  • Mandibulofacial Dysostosis / enzymology
  • Mandibulofacial Dysostosis / genetics*
  • Mutation*
  • Phenotype
  • Protein Subunits / genetics
  • RNA Polymerase I / genetics*
  • RNA Polymerase III / genetics*


  • Protein Subunits
  • RNA Polymerase I
  • RNA Polymerase III