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

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

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

Johannes G Dauwerse et al. Nat Genet. 2011 Jan.

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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