Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.
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.
Center for Human and Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands. dauw@lumc.nl
Johannes G
JG
Dauwerse
Jill
J
Dixon
Saskia
S
Seland
Claudia A L
CA
Ruivenkamp
Arie
A
van Haeringen
Lies H
LH
Hoefsloot
Dorien J M
DJ
Peters
Agnes Clement-de
AC
Boers
Cornelia
C
Daumer-Haas
Robert
R
Maiwald
Christiane
C
Zweier
Bronwyn
B
Kerr
Ana M
AM
Cobo
Joaquín F
JF
Toral
A Jeannette M
AJ
Hoogeboom
Dietmar R
DR
Lohmann
Ute
U
Hehr
Michael J
MJ
Dixon
Martijn H
MH
Breuning
Dagmar
D
Wieczorek
D000328:Adult; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D005260:Female; D018740:Genetic Heterogeneity; D006801:Humans; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000201:enzymology / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D021122:Protein Subunits / Q000235:genetics; D012318:RNA Polymerase I / Q000235:genetics*; D012320:RNA Polymerase III / Q000235:genetics*
D021122:Protein Subunits; D012318:RNA Polymerase I; D012320:RNA Polymerase III