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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2011-1-10
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pubmed:abstractText |
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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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
1546-1718
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pubmed:author |
pubmed-author:BoersAgnes Clement-deAC,
pubmed-author:BreuningMartijn HMH,
pubmed-author:CoboAna MAM,
pubmed-author:Daumer-HaasCorneliaC,
pubmed-author:DauwerseJohannes GJG,
pubmed-author:DixonJillJ,
pubmed-author:DixonMichael JMJ,
pubmed-author:HehrUteU,
pubmed-author:HoefslootLies HLH,
pubmed-author:HoogeboomA Jeannette MAJ,
pubmed-author:KerrBronwynB,
pubmed-author:LohmannDietmar RDR,
pubmed-author:MaiwaldRobertR,
pubmed-author:PetersDorien J MDJ,
pubmed-author:RuivenkampClaudia A LCA,
pubmed-author:SelandSaskiaS,
pubmed-author:ToralJoaquín FJF,
pubmed-author:WieczorekDagmarD,
pubmed-author:ZweierChristianeC,
pubmed-author:van HaeringenArieA
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pubmed:issnType |
Electronic
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pubmed:volume |
43
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
20-2
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pubmed:dateRevised |
2011-4-12
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pubmed:meshHeading |
pubmed-meshheading:21131976-Adult,
pubmed-meshheading:21131976-Alleles,
pubmed-meshheading:21131976-Child,
pubmed-meshheading:21131976-Child, Preschool,
pubmed-meshheading:21131976-Female,
pubmed-meshheading:21131976-Genetic Heterogeneity,
pubmed-meshheading:21131976-Humans,
pubmed-meshheading:21131976-Male,
pubmed-meshheading:21131976-Mandibulofacial Dysostosis,
pubmed-meshheading:21131976-Mutation,
pubmed-meshheading:21131976-Phenotype,
pubmed-meshheading:21131976-Protein Subunits,
pubmed-meshheading:21131976-RNA Polymerase I,
pubmed-meshheading:21131976-RNA Polymerase III
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pubmed:year |
2011
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pubmed:articleTitle |
Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.
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pubmed:affiliation |
Center for Human and Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands. dauw@lumc.nl
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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