2011
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome
Publication
Publication
Nature Genetics , Volume 43 - Issue 1 p. 20- 22
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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| doi.org/10.1038/ng.724, hdl.handle.net/1765/21874 | |
| Nature Genetics | |
| Organisation | Erasmus MC: University Medical Center Rotterdam |
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Dauwerse, J., Dixon, J., Seland, S., Ruivenkamp, C., van Haeringen, A., Hoefsloot, L., … Wieczorek, D. (2011). Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. Nature Genetics, 43(1), 20–22. doi:10.1038/ng.724 |
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