KEGG   DISEASE: 他の脳奇形を伴う複合皮質異形成
エントリ  
H01881                                                             
名称    
他の脳奇形を伴う複合皮質異形成
概要    
Complex cortical dysplasia with other brain malformations (CDCBM) is a disorder of aberrant neuronal migration and disturbed axonal guidance. Patients exhibit mental retardation, strabismus combined with nystagmus, axial hypotonia, and spasticity. The severity of mental retardation ranged from mild to severe. Complex cortical malformations associated with mutations in tubulin and motor proteins of the kinesin genes have been reported.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  主に1つの体系に影響する構造的発達異常
   神経系の構造的発達異常
    LA05  脳の構造的発達異常
     H01881  他の脳奇形を伴う複合皮質異形成
パスウェイに基づく疾患分類 [BR:jp08402]
 細胞プロセス
  nt06515  キネトコア-微小管相互作用の制御
   H01881  他の脳奇形を伴う複合皮質異形成
  nt06541  神経細胞の細胞骨格
   H01881  他の脳奇形を伴う複合皮質異形成
パスウェイ 
hsa04540  Gap junction
hsa04390  Hippo signaling pathway
ネットワーク
nt06515 Regulation of kinetochore-microtubule interactions
nt06541 Cytoskeleton in neurons
病因遺伝子 
(CDCBM1) TUBB3 [HSA:10381] [KO:K07375]
(CDCBM2) KIF5C [HSA:3800] [KO:K10396]
(CDCBM3) KIF2A [HSA:3796] [KO:K10393]
(CDCBM4) TUBG1 [HSA:7283] [KO:K10389]
(CDCBM5) TUBB2A [HSA:7280] [KO:K07375]
(CDCBM6) TUBB [HSA:203068] [KO:K07375]
(CDCBM7) TUBB2B [HSA:347733] [KO:K07375]
(CDCBM9) CTNNA2 [HSA:1496] [KO:K05691]
(CDCBM10) APC2 [HSA:10297] [KO:K02085]
(CDCBM11) KIF26A [HSA:26153] [KO:K10404]
(CDCBM12) CAMSAP1 [HSA:157922] [KO:K17493]
(CDCBM13) DYNC1H1 [HSA:1778] [KO:K10413]
リンク   
ICD-11: LA05.51
MeSH: D054220
OMIM: 614039 615282 615411 615412 615763 615771 610031 618174 618677 620156 620316 614563
文献    
  著者
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
  タイトル
Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly.
  雑誌
Acta Neuropathol Commun 2:69 (2014)
DOI:10.1186/2051-5960-2-69
文献    
PMID:20829227 (CDCBM1)
  著者
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
  タイトル
Mutations in the neuronal ss-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.
  雑誌
Hum Mol Genet 19:4462-73 (2010)
DOI:10.1093/hmg/ddq377
文献    
PMID:23603762 (CDCBM2 CDCBM3 CDCBM4)
  著者
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
  タイトル
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
  雑誌
Nat Genet 45:639-47 (2013)
DOI:10.1038/ng.2613
文献    
PMID:24702957 (CDCBM5)
  著者
Cushion TD, Paciorkowski AR, Pilz DT, Mullins JG, Seltzer LE, Marion RW, Tuttle E, Ghoneim D, Christian SL, Chung SK, Rees MI, Dobyns WB
  タイトル
De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy.
  雑誌
Am J Hum Genet 94:634-41 (2014)
DOI:10.1016/j.ajhg.2014.03.009
文献    
PMID:23246003 (CDCBM6)
  著者
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
  タイトル
Mutations in the beta-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities.
  雑誌
Cell Rep 2:1554-62 (2012)
DOI:10.1016/j.celrep.2012.11.017
文献    
PMID:19465910 (CDCBM7)
  著者
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
  タイトル
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria.
  雑誌
Nat Genet 41:746-52 (2009)
DOI:10.1038/ng.380
文献    
PMID:30013181 (CDCBM9)
  著者
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
  タイトル
Biallelic loss of human CTNNA2, encoding alphaN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.
  雑誌
Nat Genet 50:1093-1101 (2018)
DOI:10.1038/s41588-018-0166-0
文献    
PMID:31585108 (CDCBM10)
  著者
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
  タイトル
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.
  雑誌
Am J Hum Genet 105:844-853 (2019)
DOI:10.1016/j.ajhg.2019.08.013
文献    
PMID:36228617 (CDCBM11)
  著者
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
  タイトル
Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis.
  雑誌
Dev Cell 57:2381-2396.e13 (2022)
DOI:10.1016/j.devcel.2022.09.011
文献    
PMID:36283405 (CDCBM12)
  著者
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
  タイトル
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.
  雑誌
Am J Hum Genet 109:2068-2079 (2022)
DOI:10.1016/j.ajhg.2022.09.012
文献    
PMID:22368300 (CDCBM13)
  著者
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
  タイトル
Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.
  雑誌
J Med Genet 49:179-83 (2012)
DOI:10.1136/jmedgenet-2011-100542
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