Fallet-Bianco C, Laquerriere A, Poirier K, Razavi F, Guimiot F, Dias P, Loeuillet L, Lascelles K, Beldjord C, Carion N, Toussaint A, Revencu N, Addor MC, Lhermitte B, Gonzales M, Martinovich J, Bessieres B, Marcy-Bonniere M, Jossic F, Marcorelles P, Loget P, Chelly J, Bahi-Buisson N

Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly.

Acta Neuropathol Commun 2:69 (2014)
DOI:10.1186/2051-5960-2-69

Poirier K, Saillour Y, Bahi-Buisson N, Jaglin XH, Fallet-Bianco C, Nabbout R, Castelnau-Ptakhine L, Roubertie A, Attie-Bitach T, Desguerre I, Genevieve D, Barnerias C, Keren B, Lebrun N, Boddaert N, Encha-Razavi F, Chelly J

Mutations in the neuronal ss-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.

Hum Mol Genet 19:4462-73 (2010)
DOI:10.1093/hmg/ddq377

Poirier K, Lebrun N, Broix L, Tian G, Saillour Y, Boscheron C, Parrini E, Valence S, Pierre BS, Oger M, Lacombe D, Genevieve D, Fontana E, Darra F, Cances C, Barth M, Bonneau D, Bernadina BD, N'guyen S, Gitiaux C, Parent P, des Portes V, Pedespan JM, Legrez V, Castelnau-Ptakine L, Nitschke P, Hieu T, Masson C, Zelenika D, Andrieux A, Francis F, Guerrini R, Cowan NJ, Bahi-Buisson N, Chelly J

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.

Nat Genet 45:639-47 (2013)
DOI:10.1038/ng.2613

Cushion TD, Paciorkowski AR, Pilz DT, Mullins JG, Seltzer LE, Marion RW, Tuttle E, Ghoneim D, Christian SL, Chung SK, Rees MI, Dobyns WB

De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy.

Am J Hum Genet 94:634-41 (2014)
DOI:10.1016/j.ajhg.2014.03.009

Breuss M, Heng JI, Poirier K, Tian G, Jaglin XH, Qu Z, Braun A, Gstrein T, Ngo L, Haas M, Bahi-Buisson N, Moutard ML, Passemard S, Verloes A, Gressens P, Xie Y, Robson KJ, Rani DS, Thangaraj K, Clausen T, Chelly J, Cowan NJ, Keays DA

Mutations in the beta-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities.

Cell Rep 2:1554-62 (2012)
DOI:10.1016/j.celrep.2012.11.017

Jaglin XH, Poirier K, Saillour Y, Buhler E, Tian G, Bahi-Buisson N, Fallet-Bianco C, Phan-Dinh-Tuy F, Kong XP, Bomont P, Castelnau-Ptakhine L, Odent S, Loget P, Kossorotoff M, Snoeck I, Plessis G, Parent P, Beldjord C, Cardoso C, Represa A, Flint J, Keays DA, Cowan NJ, Chelly J

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

Nat Genet 41:746-52 (2009)
DOI:10.1038/ng.380

Schaffer AE, Breuss MW, Caglayan AO, Al-Sanaa N, Al-Abdulwahed HY, Kaymakcalan H, Yilmaz C, Zaki MS, Rosti RO, Copeland B, Baek ST, Musaev D, Scott EC, Ben-Omran T, Kariminejad A, Kayserili H, Mojahedi F, Kara M, Cai N, Silhavy JL, Elsharif S, Fenercioglu E, Barshop BA, Kara B, Wang R, Stanley V, James KN, Nachnani R, Kalur A, Megahed H, Incecik F, Danda S, Alanay Y, Faqeih E, Melikishvili G, Mansour L, Miller I, Sukhudyan B, Chelly J, Dobyns WB, Bilguvar K, Jamra RA, Gunel M, Gleeson JG

Biallelic loss of human CTNNA2, encoding alphaN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.

Nat Genet 50:1093-1101 (2018)
DOI:10.1038/s41588-018-0166-0

Lee S, Chen DY, Zaki MS, Maroofian R, Houlden H, Di Donato N, Abdin D, Morsy H, Mirzaa GM, Dobyns WB, McEvoy-Venneri J, Stanley V, James KN, Mancini GMS, Schot R, Kalayci T, Altunoglu U, Karimiani EG, Brick L, Kozenko M, Jamshidi Y, Manzini MC, Beiraghi Toosi M, Gleeson JG

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.

Am J Hum Genet 105:844-853 (2019)
DOI:10.1016/j.ajhg.2019.08.013

Qian X, DeGennaro EM, Talukdar M, Akula SK, Lai A, Shao DD, Gonzalez D, Marciano JH, Smith RS, Hylton NK, Yang E, Bazan JF, Barrett L, Yeh RC, Hill RS, Beck SG, Otani A, Angad J, Mitani T, Posey JE, Pehlivan D, Calame D, Aydin H, Yesilbas O, Parks KC, Argilli E, England E, Im K, Taranath A, Scott HS, Barnett CP, Arts P, Sherr EH, Lupski JR, Walsh CA

Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis.

Dev Cell 57:2381-2396.e13 (2022)
DOI:10.1016/j.devcel.2022.09.011

Khalaf-Nazzal R, Fasham J, Inskeep KA, Blizzard LE, Leslie JS, Wakeling MN, Ubeyratna N, Mitani T, Griffith JL, Baker W, Al-Hijawi F, Keough KC, Gezdirici A, Pena L, Spaeth CG, Turnpenny PD, Walsh JR, Ray R, Neilson A, Kouranova E, Cui X, Curiel DT, Pehlivan D, Akdemir ZC, Posey JE, Lupski JR, Dobyns WB, Stottmann RW, Crosby AH, Baple EL

Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.

Am J Hum Genet 109:2068-2079 (2022)
DOI:10.1016/j.ajhg.2022.09.012

Willemsen MH, Vissers LE, Willemsen MA, van Bon BW, Kroes T, de Ligt J, de Vries BB, Schoots J, Lugtenberg D, Hamel BC, van Bokhoven H, Brunner HG, Veltman JA, Kleefstra T

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.

J Med Genet 49:179-83 (2012)
DOI:10.1136/jmedgenet-2011-100542

Cooymans P, Al-Zuhaibi S, Al-Senawi R, Ganesh A

Congenital fibrosis of the extraocular muscles.

Oman J Ophthalmol 3:70-4 (2010)
DOI:10.4103/0974-620X.64230

Heidary G, Engle EC, Hunter DG

Congenital fibrosis of the extraocular muscles.

Semin Ophthalmol 23:3-8 (2008)
DOI:10.1080/08820530701745181

Tischfield MA, Baris HN, Wu C, Rudolph G, Van Maldergem L, He W, Chan WM, Andrews C, Demer JL, Robertson RL, Mackey DA, Ruddle JB, Bird TD, Gottlob I, Pieh C, Traboulsi EI, Pomeroy SL, Hunter DG, Soul JS, Newlin A, Sabol LJ, Doherty EJ, de Uzcategui CE, de Uzcategui N, Collins ML, Sener EC, Wabbels B, Hellebrand H, Meitinger T, de Berardinis T, Magli A, Schiavi C, Pastore-Trossello M, Koc F, Wong AM, Levin AV, Geraghty MT, Descartes M, Flaherty M, Jamieson RV, Moller HU, Meuthen I, Callen DF, Kerwin J, Lindsay S, Meindl A, Gupta ML Jr, Pellman D, Engle EC

Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.

Cell 140:74-87 (2010)
DOI:10.1016/j.cell.2009.12.011

Shinwari JM, Khan A, Awad S, Shinwari Z, Alaiya A, Alanazi M, Tahir A, Poizat C, Al Tassan N

Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder.

Am J Hum Genet 96:147-52 (2015)
DOI:10.1016/j.ajhg.2014.11.006