KEGG   DISEASE: Complex cortical dysplasia with other brain malformations
Entry
H01881                      Disease                                
Name
Complex cortical dysplasia with other brain malformations
Description
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.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the nervous system
   H01881  Complex cortical dysplasia with other brain malformations
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the nervous system
    LA05  Cerebral structural developmental anomalies
     H01881  Complex cortical dysplasia with other brain malformations
Related
pathway
hsa04540 Gap junction   
hsa04390 Hippo signaling pathway   
Gene
(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]
Other DBs
ICD-11: LA05.51
ICD-10: Q04.8
MeSH: D054220
OMIM: 614039 615282 615411 615412 615763 615771 610031 618174 618677
Reference
  Authors
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
  Title
Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly.
  Journal
Acta Neuropathol Commun 2:69 (2014)
DOI:10.1186/2051-5960-2-69
Reference
PMID:20829227 (TUBB3)
  Authors
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
  Title
Mutations in the neuronal ss-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.
  Journal
Hum Mol Genet 19:4462-73 (2010)
DOI:10.1093/hmg/ddq377
Reference
PMID:23603762 (KIF5C, KIF2A, TUBG1)
  Authors
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
  Title
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
  Journal
Nat Genet 45:639-47 (2013)
DOI:10.1038/ng.2613
Reference
PMID:24702957 (TUBB2A)
  Authors
Cushion TD, Paciorkowski AR, Pilz DT, Mullins JG, Seltzer LE, Marion RW, Tuttle E, Ghoneim D, Christian SL, Chung SK, Rees MI, Dobyns WB
  Title
De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy.
  Journal
Am J Hum Genet 94:634-41 (2014)
DOI:10.1016/j.ajhg.2014.03.009
Reference
PMID:23246003 (TUBB)
  Authors
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
  Title
Mutations in the beta-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities.
  Journal
Cell Rep 2:1554-62 (2012)
DOI:10.1016/j.celrep.2012.11.017
Reference
PMID:19465910 (TUBB2B)
  Authors
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
  Title
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria.
  Journal
Nat Genet 41:746-52 (2009)
DOI:10.1038/ng.380
Reference
PMID:30013181 (CTNNA2)
  Authors
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
  Title
Biallelic loss of human CTNNA2, encoding alphaN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.
  Journal
Nat Genet 50:1093-1101 (2018)
DOI:10.1038/s41588-018-0166-0
Reference
PMID:31585108 (APC2)
  Authors
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
  Title
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.
  Journal
Am J Hum Genet 105:844-853 (2019)
DOI:10.1016/j.ajhg.2019.08.013
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