2. Academic Validation
  3. Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

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.
Johannes G Dauwerse 1,  Jill Dixon,  Saskia Seland,  Claudia A L Ruivenkamp,  Arie van Haeringen,  Lies H Hoefsloot,  Dorien J M Peters,  Agnes Clement-de Boers,  Cornelia Daumer-Haas,  Robert Maiwald,  Christiane Zweier,  Bronwyn Kerr,  Ana M Cobo,  Joaquín F Toral,  A Jeannette M Hoogeboom,  Dietmar R Lohmann,  Ute Hehr,  Michael J Dixon,  Martijn H Breuning,  Dagmar Wieczorek
Affiliations

Affiliation

  • 1 Center for Human and Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands. dauw@lumc.nl
PMID: 21131976 DOI: 10.1038/ng.724
Abstract

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.

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