Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria.

Xavier Hubert Jaglin; Karine Poirier; Yoann Saillour; Emmanuelle Buhler; Guoling Tian; Nadia Bahi-Buisson; Catherine Fallet-Bianco; Françoise Phan-Dinh-Tuy; Xiang Peng Kong; Pascale Bomont; Laëtitia Castelnau-Ptakhine; Sylvie Odent; Philippe Loget; Manoelle Kossorotoff; Irina Snoeck; Ghislaine Plessis; Philippe Parent; Cherif Beldjord; Carlos Cardoso; Alfonso Represa; Jonathan Flint; David Anthony Keays; Nicholas Justin Cowan; Jamel Chelly

doi:10.1038/ng.380

Journal Articles Nature Genetics Year : 2009

Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria.

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Xavier Hubert Jaglin

Function : Author

Institut Cochin

Karine Poirier

Function : Author

Institut Cochin

Yoann Saillour

Function : Author

Institut Cochin

Emmanuelle Buhler

Function : Author

Institut de Neurobiologie de la Méditerranée [Aix-Marseille Université]

Guoling Tian

Function : Author

Department of Biochemistry

Nadia Bahi-Buisson

Function : Author

Institut Cochin

Service de neurologie pédiatrique [CHU Necker]

Catherine Fallet-Bianco

Function : Author

Service d'Anatomie Pathologique

Françoise Phan-Dinh-Tuy

Function : Author

Institut Cochin

Xiang Peng Kong

Function : Author

Department of Biochemistry

Pascale Bomont

Function : Author

Institut de Neurobiologie de la Méditerranée [Aix-Marseille Université]

Laëtitia Castelnau-Ptakhine

Function : Author

Institut Cochin

Sylvie Odent

Function : Author
PersonId : 851735

Service de génétique clinique [Rennes]

Philippe Loget

Function : Author

Service d'anatomie et cytologie pathologiques [Rennes] = Anatomy and Cytopathology [Rennes]

Manoelle Kossorotoff

Function : Author

Service de neurologie pédiatrique [CHU Necker]

Irina Snoeck

Function : Author

Locatie Juliana Kinderziekenhuis Polikliniek

Ghislaine Plessis

Function : Author

Service de Génétique [CHU Caen]

Philippe Parent

Function : Author

Unité d'hémato-oncologie

Cherif Beldjord

Function : Author

Laboratoire de biochimie et génétique moléculaire

Carlos Cardoso

Function : Author
PersonId : 758415
ORCID : 0000-0003-1914-9553
IdRef : 069165416

Institut de Neurobiologie de la Méditerranée [Aix-Marseille Université]

Alfonso Represa

Function : Author
PersonId : 738835
IdHAL : alfonso-represa
ORCID : 0000-0002-5096-8939
IdRef : 080281001

Institut de Neurobiologie de la Méditerranée [Aix-Marseille Université]

Jonathan Flint

Function : Author

The Wellcome Trust Centre for Human Genetics [Oxford]

David Anthony Keays

Function : Author

Institute of Molecular Pathology

Nicholas Justin Cowan

Function : Correspondent author
PersonId : 861987

Connectez-vous pour contacter l'auteur

Department of Biochemistry

Jamel Chelly

Function : Correspondent author
PersonId : 861988

Connectez-vous pour contacter l'auteur

Institut Cochin

Abstract

Polymicrogyria is a relatively common but poorly understood defect of cortical development characterized by numerous small gyri and a thick disorganized cortical plate lacking normal lamination. Here we report de novo mutations in a beta-tubulin gene, TUBB2B, in four individuals and a 27-gestational-week fetus with bilateral asymmetrical polymicrogyria. Neuropathological examination of the fetus revealed an absence of cortical lamination associated with the presence of ectopic neuronal cells in the white matter and in the leptomeningeal spaces due to breaches in the pial basement membrane. In utero RNAi-based inactivation demonstrates that TUBB2B is required for neuronal migration. We also show that two disease-associated mutations lead to impaired formation of tubulin heterodimers. These observations, together with previous data, show that disruption of microtubule-based processes underlies a large spectrum of neuronal migration disorders that includes not only lissencephaly and pachygyria, but also polymicrogyria malformations.

Domains

Life Sciences [q-bio] Development Biology Life Sciences [q-bio] Genetics Life Sciences [q-bio] Neurons and Cognition [q-bio.NC]

Fichier principal

inserm-00404834_edited.pdf (642.43 Ko)

Chelly_supp_info.pdf (578.14 Ko)

NG_Letter_24651R_Chelly.pdf (326.7 Ko)

Supp._Fig_10Fv2_NG_CCT_cycling.jpg (239.47 Ko)

Supp._Fig_11Fv2_NG_GTP_supcplx.jpg (274.85 Ko)

Supp._Fig_12Fv1_NG_dynamic_cells.jpg (718.89 Ko)

Supp._Fig_12Fv1_suite.jpg (106.65 Ko)

Supp._Fig_1Fv2_align_SNPs_.jpg (411.64 Ko)

Supp._Fig_2Fv1_NG_alignment_.jpg (487.54 Ko)

Supp._Fig_3Rv4_IRM_.jpg (324.15 Ko)

Supp._Fig_4Fv1_migration_map2_.jpg (516.52 Ko)

Supp._Fig_5Fv2_NG_expression_600dpi.jpg (885.28 Ko)

Supp._Fig_5Fv2_suite.jpg (91.24 Ko)

Supp._Fig_6Fv2_MACS_.jpg (192.75 Ko)

Supp._Fig_7Fv2_quant_CDSsh_.jpg (732.4 Ko)

Supp._Fig_8Fv2_cinetique_.jpg (443.21 Ko)

Supp._Fig_9Fv2_NG_TBCD_S172P.jpg (375.64 Ko)

Supp._Tbl_1Fv2_NG_-_copie.jpg (106.02 Ko)

Supp._Tbl_2Rv5_-_copie.jpg (501.42 Ko)

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Origin : Files produced by the author(s)

Format : Other

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https://www.hal.inserm.fr/inserm-00404834

Submitted on : Monday, November 30, 2009-4:17:02 PM

Last modification on : Tuesday, February 7, 2023-2:44:43 PM

Long-term archiving on: Tuesday, June 15, 2010-8:21:04 PM

Dates and versions

inserm-00404834 , version 1 (30-11-2009)

Identifiers

HAL Id : inserm-00404834 , version 1
DOI : 10.1038/ng.380
PUBMED : 19465910

Cite

Xavier Hubert Jaglin, Karine Poirier, Yoann Saillour, Emmanuelle Buhler, Guoling Tian, et al.. Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria.. Nature Genetics, 2009, 41 (6), pp.746-752. ⟨10.1038/ng.380⟩. ⟨inserm-00404834⟩

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Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria.

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