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

Dauwerse Johannes G<sup>*</sup>; Dixon Jill; Seland Saskia; Ruivenkamp Claudia A L; van Haeringen Arie; Hoefsloot Lies H; Peters Dorien J M; Boers Agnes Clement de; Daumer Haas Cornelia; Maiwald Robert; Zweier Christiane; Kerr Bronwyn; Cobo Ana M; Toral Joaquin F; Hoogeboom A Jeannette M; Lohmann Dietmar R; Hehr Ute; Dixon Michael J; Breuning Martijn H; Wieczorek Dagmar

doi:10.1038/ng.724

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

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

来源：Nature Genetics, 2011, 43(1): 20-22.

DOI：10.1038/ng.724

摘要

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.