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

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; Joaquín F. Toral; A. Jeannette M Hoogeboom; Dietmar R. Lohmann; Ute Hehr; Michael J. Dixon; Martijn H. Breuning; Dagmar Wieczorek

doi:10.1038/ng.724

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

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, Joaquín F. Toral, A. Jeannette M Hoogeboom, Dietmar R. Lohmann, Ute Hehr, Michael J. Dixon, Martijn H. Breuning, Dagmar Wieczorek

Research output: Contribution to journal › Article › peer-review

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. © 2011 Nature America, Inc. All rights reserved.

Original language	English
Pages (from-to)	20-22
Number of pages	2
Journal	Nature Genetics
Volume	43
Issue number	1
DOIs	https://doi.org/10.1038/ng.724
Publication status	Published - Jan 2011

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Dauwerse, J. G., Dixon, J., Seland, S., Ruivenkamp, C. A. L., Van Haeringen, A., Hoefsloot, L. H., Peters, D. J. M., Boers, A. C. D., Daumer-Haas, C., Maiwald, R., Zweier, C., Kerr, B., Cobo, A. M., Toral, J. F., Hoogeboom, A. J. M., Lohmann, D. R., Hehr, U., Dixon, M. J., Breuning, M. H., & Wieczorek, D. (2011). Mutations in genes encoding subunits of RNA polymerases i and III cause Treacher Collins syndrome. Nature Genetics, 43(1), 20-22. https://doi.org/10.1038/ng.724

@article{458d380d083449e5b6d830f912e330f1,

title = "Mutations in genes encoding subunits of RNA polymerases i and III cause Treacher Collins syndrome",

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. {\textcopyright} 2011 Nature America, Inc. All rights reserved.",

author = "Dauwerse, {Johannes G.} and Jill Dixon and Saskia Seland and Ruivenkamp, {Claudia A L} and {Van Haeringen}, Arie and Hoefsloot, {Lies H.} and Peters, {Dorien J M} and Boers, {Agnes Clement De} and Cornelia Daumer-Haas and Robert Maiwald and Christiane Zweier and Bronwyn Kerr and Cobo, {Ana M.} and Toral, {Joaqu{\'i}n F.} and Hoogeboom, {A. Jeannette M} and Lohmann, {Dietmar R.} and Ute Hehr and Dixon, {Michael J.} and Breuning, {Martijn H.} and Dagmar Wieczorek",

year = "2011",

month = jan,

doi = "10.1038/ng.724",

language = "English",

volume = "43",

pages = "20--22",

journal = "Nature Genetics",

issn = "1061-4036",

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Dauwerse, JG, Dixon, J, Seland, S, Ruivenkamp, CAL, Van Haeringen, A, Hoefsloot, LH, Peters, DJM, Boers, ACD, Daumer-Haas, C, Maiwald, R, Zweier, C, Kerr, B, Cobo, AM, Toral, JF, Hoogeboom, AJM, Lohmann, DR, Hehr, U, Dixon, MJ, Breuning, MH & Wieczorek, D 2011, 'Mutations in genes encoding subunits of RNA polymerases i and III cause Treacher Collins syndrome', Nature Genetics, vol. 43, no. 1, pp. 20-22. https://doi.org/10.1038/ng.724

TY - JOUR

T1 - Mutations in genes encoding subunits of RNA polymerases i and III cause Treacher Collins syndrome

AU - Dauwerse, Johannes G.

AU - Dixon, Jill

AU - Seland, Saskia

AU - Ruivenkamp, Claudia A L

AU - Van Haeringen, Arie

AU - Hoefsloot, Lies H.

AU - Peters, Dorien J M

AU - Boers, Agnes Clement De

AU - Daumer-Haas, Cornelia

AU - Maiwald, Robert

AU - Zweier, Christiane

AU - Kerr, Bronwyn

AU - Cobo, Ana M.

AU - Toral, Joaquín F.

AU - Hoogeboom, A. Jeannette M

AU - Lohmann, Dietmar R.

AU - Hehr, Ute

AU - Dixon, Michael J.

AU - Breuning, Martijn H.

AU - Wieczorek, Dagmar

PY - 2011/1

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AB - 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. © 2011 Nature America, Inc. All rights reserved.

U2 - 10.1038/ng.724

DO - 10.1038/ng.724

M3 - Article

C2 - 21131976

SN - 1061-4036

VL - 43

SP - 20

EP - 22

JO - Nature Genetics

JF - Nature Genetics

IS - 1

ER -

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

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