Mutations in Genes Encoding Subunits of RNA Polymerases I and III Cause Treacher Collins Syndrome

Overview

Journal Nat Genet

Specialty Genetics

Date 2010 Dec 7

PMID 21131976

Citations 149

Authors

Johannes G Dauwerse

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

Joaquin F Toral

A Jeannette M Hoogeboom

Dietmar R Lohmann

Ute Hehr

Michael J Dixon

Martijn H Breuning

Dagmar Wieczorek

Affiliations

Soon will be listed here.

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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