X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

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X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Hu, H. (author): Max Planck Inst Mol Genet, Dept Human Mol Genet, D-14195 Berlin, Germany.

Haas, S. A. (author): Max Planck Inst Mol Genet, Dept Computat Mol Biol, D-14195 Berlin, Germany.

Chelly, J. (author): Univ Paris 05, Paris, France.;CNRS, UMR 8104, Inst Cochin, Inst Natl Sante & Rech Med,Unit 1016, Paris, France.

Van Esch, H. (author): Univ Hosp Leuven, Ctr Human Genet, Leuven, Belgium.

Raynaud, M. (author): INSERM, Imaging & Brain U930, Tours, France.;Univ Tours, Tours, France.;Ctr Hosp Reg Univ, Serv Genet, Tours, France.

de Brouwer, A. P. M. (author): Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands.

Weinert, S. (author): Max Delbruck Centrum Mol Med, Berlin, Germany.;Leibniz Inst Mol Pharmacol, Berlin, Germany.

Froyen, G. (author): VIB Ctr Biol Dis, Human Genome Lab, Leuven, Belgium.;Katholieke Univ Leuven, Dept Human Genet, Human Genome Lab, Leuven, Belgium.

Frints, S. G. M. (author): Maastricht Univ, Med Ctr, AzM, Dept Clin Genet, NL-6200 MD Maastricht, Netherlands.;Maastricht Univ, GROW, Sch Oncol & Dev Biol, NL-6200 MD Maastricht, Netherlands.

Laumonnier, F. (author): INSERM, Imaging & Brain U930, Tours, France.;Univ Tours, Tours, France.

Zemojtel, T. (author): Max Planck Inst Mol Genet, Dept Computat Mol Biol, D-14195 Berlin, Germany.

Love, M. I. (author): Max Planck Inst Mol Genet, Dept Computat Mol Biol, D-14195 Berlin, Germany.

Richard, H. (author): Max Planck Inst Mol Genet, Dept Computat Mol Biol, D-14195 Berlin, Germany.

Emde, A-K (author): Max Planck Inst Mol Genet, Dept Computat Mol Biol, D-14195 Berlin, Germany.

Bienek, M. (author): Max Planck Inst Mol Genet, Dept Human Mol Genet, D-14195 Berlin, Germany.

Jensen, C. (author): Max Planck Inst Mol Genet, Dept Human Mol Genet, D-14195 Berlin, Germany.

Hambrock, M. (author): Max Planck Inst Mol Genet, Dept Human Mol Genet, D-14195 Berlin, Germany.

Fischer, U. (author): Max Planck Inst Mol Genet, Dept Human Mol Genet, D-14195 Berlin, Germany.

Langnick, C. (author): Max Delbruck Centrum Mol Med, Berlin, Germany.

Feldkamp, M. (author): Max Delbruck Centrum Mol Med, Berlin, Germany.

Wissink-Lindhout, W. (author): Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands.

Lebrun, N. (author): Univ Paris 05, Paris, France.;CNRS, UMR 8104, Inst Cochin, Inst Natl Sante & Rech Med,Unit 1016, Paris, France.

Castelnau, L. (author): Univ Paris 05, Paris, France.;CNRS, UMR 8104, Inst Cochin, Inst Natl Sante & Rech Med,Unit 1016, Paris, France.

Rucci, J. (author): Univ Paris 05, Paris, France.;CNRS, UMR 8104, Inst Cochin, Inst Natl Sante & Rech Med,Unit 1016, Paris, France.

Montjean, R. (author): Univ Paris 05, Paris, France.;CNRS, UMR 8104, Inst Cochin, Inst Natl Sante & Rech Med,Unit 1016, Paris, France.

Dorseuil, O. (author): Univ Paris 05, Paris, France.;CNRS, UMR 8104, Inst Cochin, Inst Natl Sante & Rech Med,Unit 1016, Paris, France.

Billuart, P. (author): Univ Paris 05, Paris, France.;CNRS, UMR 8104, Inst Cochin, Inst Natl Sante & Rech Med,Unit 1016, Paris, France.

Stuhlmann, T. (author): Max Delbruck Centrum Mol Med, Berlin, Germany.;Leibniz Inst Mol Pharmacol, Berlin, Germany.

Shaw, M. (author): Univ Adelaide, Sch Paediat & Reprod Hlth, Adelaide, SA, Australia.;Univ Adelaide, Robinson Res Inst, Adelaide, SA, Australia.

Corbett, M. A. (author): Univ Adelaide, Sch Paediat & Reprod Hlth, Adelaide, SA, Australia.;Univ Adelaide, Robinson Res Inst, Adelaide, SA, Australia.

Gardner, A. (author): Univ Adelaide, Sch Paediat & Reprod Hlth, Adelaide, SA, Australia.;Univ Adelaide, Robinson Res Inst, Adelaide, SA, Australia.

Willis-Owen, S. (author): Univ Adelaide, Sch Paediat & Reprod Hlth, Adelaide, SA, Australia.;Univ London Imperial Coll Sci Technol & Med, Natl Heart & Lung Inst, London, England.

Tan, C. (author): Univ Adelaide, Sch Paediat & Reprod Hlth, Adelaide, SA, Australia.

Friend, K. L. (author): Womens & Childrens Hosp, SA Pathol, Adelaide, SA, Australia.

Belet, S. (author): VIB Ctr Biol Dis, Human Genome Lab, Leuven, Belgium.;Katholieke Univ Leuven, Dept Human Genet, Human Genome Lab, Leuven, Belgium.

van Roozendaal, K. E. P. (author): Maastricht Univ, Med Ctr, AzM, Dept Clin Genet, NL-6200 MD Maastricht, Netherlands.;Maastricht Univ, GROW, Sch Oncol & Dev Biol, NL-6200 MD Maastricht, Netherlands.

Jimenez-Pocquet, M. (author): Ctr Hosp Reg Univ, Serv Genet, Tours, France.

Moizard, M-P (author): INSERM, Imaging & Brain U930, Tours, France.;Univ Tours, Tours, France.;Ctr Hosp Reg Univ, Serv Genet, Tours, France.

Ronce, N. (author): INSERM, Imaging & Brain U930, Tours, France.;Univ Tours, Tours, France.;Ctr Hosp Reg Univ, Serv Genet, Tours, France.

Sun, R. (author): Max Planck Inst Mol Genet, Dept Computat Mol Biol, D-14195 Berlin, Germany.

O'Keeffe, S. (author): Max Planck Inst Mol Genet, Dept Computat Mol Biol, D-14195 Berlin, Germany.

Chenna, R. (author): Max Planck Inst Mol Genet, Dept Computat Mol Biol, D-14195 Berlin, Germany.

Van Boemmel, A. (author): Max Planck Inst Mol Genet, Dept Computat Mol Biol, D-14195 Berlin, Germany.

Goeke, J. (author): Max Planck Inst Mol Genet, Dept Computat Mol Biol, D-14195 Berlin, Germany.

Hackett, A. (author): Genet Learning & Disabil Serv, Hunter Genet, Waratah, NSW, Australia.

Field, M. (author): Genet Learning & Disabil Serv, Hunter Genet, Waratah, NSW, Australia.

Christie, L. (author): Genet Learning & Disabil Serv, Hunter Genet, Waratah, NSW, Australia.

Boyle, J. (author): Genet Learning & Disabil Serv, Hunter Genet, Waratah, NSW, Australia.

Haan, E. (author): Womens & Childrens Hosp, SA Pathol, Adelaide, SA, Australia.

Nelson, J. (author): King Edward Mem Hosp, Genet Serv Western Australia, Perth, WA, Australia.

Turner, G. (author): Genet Learning & Disabil Serv, Hunter Genet, Waratah, NSW, Australia.

Baynam, G. (author): King Edward Mem Hosp, Genet Serv Western Australia, Perth, WA, Australia.;Univ Western Australia, Sch Paediat & Child Hlth, Perth, WA 6009, Australia.;Murdoch Univ, Inst Immunol & Infect Dis, Perth, WA, Australia.;Telethon Kids Inst, Perth, WA, Australia.

Gillessen-Kaesbach, G. (author): Univ Lubeck, Inst Humangenet, Lubeck, Germany.

Mueller, U. (author): Univ Giessen, Inst Humangenet, D-35390 Giessen, Germany.;Biol Ctr Human Genet, Frankfurt, Germany.

Steinberger, D. (author): Univ Giessen, Inst Humangenet, D-35390 Giessen, Germany.;Biol Ctr Human Genet, Frankfurt, Germany.

Budny, B. (author): Ponzan Univ Med Sci, Chair Dept Endocrinol Metab & Internal Dis, Poznan, Poland.

Badura-Stronka, M. (author): Ponzan Univ Med Sci, Chair Dept Med Genet, Poznan, Poland.

Latos-Bielenska, A. (author): Ponzan Univ Med Sci, Chair Dept Med Genet, Poznan, Poland.

Ousager, L. B. (author): Odense Univ Hosp, Dept Clin Genet, DK-5000 Odense, Denmark.

Wieacker, P. (author): Univ Klinikum Munster, Inst Humangenet, Munster, Germany.

Criado, G. Rodriguez (author): Hosp Virgen Rocio, Unidad Genet Clin, Seville, Spain.

Bondeson, Marie-Louise (author): Uppsala universitet,Medicinsk genetik och genomik

Annerén, Göran (author): Uppsala universitet,Medicinsk genetik och genomik

Dufke, A. (author): Inst Med Genet & Angew Genom, Tubingen, Germany.

Cohen, M. (author): Kinderzentrum Munchen, Munich, Germany.

Van Maldergem, L. (author): Univ Franche Comte, Ctr Genet Humaine, F-25030 Besancon, France.

Vincent-Delorme, C. (author): CHRU Lilles, Hop Jeanne Flandre, Serv Genet, Lille, France.

Echenne, B. (author): CHU Montpellier, Serve Neuropediat, Montpellier, France.

Simon-Bouy, B. (author): Ctr Hosp Versailles, Lab SESEP, Le Chesnay, France.

Kleefstra, T. (author): Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands.

Willemsen, M. (author): Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands.

Fryns, J-P (author): Univ Hosp Leuven, Ctr Human Genet, Leuven, Belgium.

Devriendt, K. (author): Univ Hosp Leuven, Ctr Human Genet, Leuven, Belgium.

Ullmann, R. (author): Max Planck Inst Mol Genet, Dept Human Mol Genet, D-14195 Berlin, Germany.

Vingron, M. (author): Max Planck Inst Mol Genet, Dept Computat Mol Biol, D-14195 Berlin, Germany.

Wrogemann, K. (author): Univ Manitoba, Dept Biochem & Med Genet, Winnipeg, MB, Canada.

Wienker, T. F. (author): Max Planck Inst Mol Genet, Dept Human Mol Genet, D-14195 Berlin, Germany.

Tzschach, A. (author): Max Planck Inst Mol Genet, Dept Human Mol Genet, D-14195 Berlin, Germany.

van Bokhoven, H. (author): Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Dept Human Genet, NL-6525 ED Nijmegen, Netherlands.

Gecz, J. (author): Univ Adelaide, Sch Paediat & Reprod Hlth, Adelaide, SA, Australia.

Jentsch, T. J. (author): Max Delbruck Centrum Mol Med, Berlin, Germany.;Leibniz Inst Mol Pharmacol, Berlin, Germany.

Chen, W. (author): Max Delbruck Centrum Mol Med, Berlin, Germany.

Ropers, H-H (author): Max Planck Inst Mol Genet, Dept Human Mol Genet, D-14195 Berlin, Germany.

Kalscheuer, V. M. (author): Max Planck Inst Mol Genet, Dept Human Mol Genet, D-14195 Berlin, Germany.

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Max Planck Inst Mol Genet, Dept Human Mol Genet, D-14195 Berlin, Germany Max Planck Inst Mol Genet, Dept Computat Mol Biol, D-14195 Berlin, Germany. (creator_code:org_t)

2015-02-03
2016
English.
In: Molecular Psychiatry. - : Springer Science and Business Media LLC. - 1359-4184 .- 1476-5578. ; 21:1, s. 133-148

Related links:: https://www.nature.c...; show more...; https://urn.kb.se/re...; https://doi.org/10.1...; show less...

Journal article (peer-reviewed)

Abstract Subject headings

X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID genes have been identified. Yet, a large number of families mapping to the X-chromosome remained unresolved suggesting that more XLID genes or loci are yet to be identified. Here, we have investigated 405 unresolved families with XLID. We employed massively parallel sequencing of all X-chromosome exons in the index males. The majority of these males were previously tested negative for copy number variations and for mutations in a subset of known XLID genes by Sanger sequencing. In total, 745 X-chromosomal genes were screened. After stringent filtering, a total of 1297 non-recurrent exonic variants remained for prioritization. Co-segregation analysis of potential clinically relevant changes revealed that 80 families (20%) carried pathogenic variants in established XLID genes. In 19 families, we detected likely causative protein truncating and missense variants in 7 novel and validated XLID genes (CLCN4, CNKSR2, FRMPD4, KLHL15, LAS1L, RLIM and USP27X) and potentially deleterious variants in 2 novel candidate XLID genes (CDK16 and TAF1). We show that the CLCN4 and CNKSR2 variants impair protein functions as indicated by electrophysiological studies and altered differentiation of cultured primary neurons from Clcn4(-/-) mice or after mRNA knock-down. The newly identified and candidate XLID proteins belong to pathways and networks with established roles in cognitive function and intellectual disability in particular. We suggest that systematic sequencing of all X-chromosomal genes in a cohort of patients with genetic evidence for X-chromosome locus involvement may resolve up to 58% of Fragile X-negative cases.

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By the author/editor: Hu, H.; Haas, S. A.; Chelly, J.; Van Esch, H.; Raynaud, M.; de Brouwer, A. P ...; show more...; Weinert, S.; Froyen, G.; Frints, S. G. M.; Laumonnier, F.; Zemojtel, T.; Love, M. I.; Richard, H.; Emde, A-K; Bienek, M.; Jensen, C.; Hambrock, M.; Fischer, U.; Langnick, C.; Feldkamp, M.; Wissink-Lindhout ...; Lebrun, N.; Castelnau, L.; Rucci, J.; Montjean, R.; Dorseuil, O.; Billuart, P.; Stuhlmann, T.; Shaw, M.; Corbett, M. A.; Gardner, A.; Willis-Owen, S.; Tan, C.; Friend, K. L.; Belet, S.; van Roozendaal, ...; Jimenez-Pocquet, ...; Moizard, M-P; Ronce, N.; Sun, R.; O'Keeffe, S.; Chenna, R.; Van Boemmel, A.; Goeke, J.; Hackett, A.; Field, M.; Christie, L.; Boyle, J.; Haan, E.; Nelson, J.; Turner, G.; Baynam, G.; Gillessen-Kaesba ...; Mueller, U.; Steinberger, D.; Budny, B.; Badura-Stronka, ...; Latos-Bielenska, ...; Ousager, L. B.; Wieacker, P.; Criado, G. Rodri ...; Bondeson, Marie- ...; Annerén, Göran; Dufke, A.; Cohen, M.; Van Maldergem, L ...; Vincent-Delorme, ...; Echenne, B.; Simon-Bouy, B.; Kleefstra, T.; Willemsen, M.; Fryns, J-P; Devriendt, K.; Ullmann, R.; Vingron, M.; Wrogemann, K.; Wienker, T. F.; Tzschach, A.; van Bokhoven, H.; Gecz, J.; Jentsch, T. J.; Chen, W.; Ropers, H-H; Kalscheuer, V. M ...; show less...

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Medical Biotechn ...; and Medical Biotechn ...

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Neurosciences

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Psychiatry

Articles in the publication: Molecular Psychi ...

By the university: Uppsala University

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X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

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