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

JG Dauwerse, J Dixon, S Seland, CAL Ruivenkamp, A van Haeringen, LH Hoefsloot, DJM Peters, ACD Boers, C Daumer-Haas, R Maiwald, C Zweier, B Kerr, AM Cobo, JF Toral, Jeannette Hoogeboom, DR Lohmann, U Hehr, MJ Dixon, MH Breuning, D Wieczorek

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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.
Original languageUndefined/Unknown
Pages (from-to)20-22
Number of pages3
JournalNature Genetics
Volume43
Issue number1
DOIs
Publication statusPublished - 2011

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