KEGG DISEASE: Complex cortical dysplasia with other brain malformations

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 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
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06515  Regulation of kinetochore-microtubule interactions
   H01881  Complex cortical dysplasia with other brain malformations
  nt06541  Cytoskeleton in neurons
   H01881  Complex cortical dysplasia with other brain malformations

Pathway

hsa04540

Gap junction

hsa04390

Hippo signaling pathway

Network

nt06515 Regulation of kinetochore-microtubule interactions
nt06541 Cytoskeleton in neurons

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]
(CDCBM11) KIF26A [HSA:26153] [KO:K10404]
(CDCBM12) CAMSAP1 [HSA:157922] [KO:K17493]
(CDCBM13) DYNC1H1 [HSA:1778] [KO:K10413]

Other DBs

ICD-11:

LA05.51

MeSH:

D054220

OMIM:

614039 615282 615411 615412 615763 615771 610031 618174 618677 620156 620316 614563

Reference

PMID:25059107

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 (CDCBM1)

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 (CDCBM2 CDCBM3 CDCBM4)

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 (CDCBM5)

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 (CDCBM6)

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 (CDCBM7)

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 (CDCBM9)

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 (CDCBM10)

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

Reference

PMID:36228617 (CDCBM11)

Authors

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

Title

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

Journal

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

Reference

PMID:36283405 (CDCBM12)

Authors

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

Title

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

Journal

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

Reference

PMID:22368300 (CDCBM13)

Authors

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

Title

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

Journal

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

LinkDB

» Japanese version

DISEASE: Congenital symmetric circumferential skin creases

Entry

H01579                      Disease

Name

Congenital symmetric circumferential skin creases;
Kunze-Riehm syndrome;
Michelin tire baby syndrome

Description

Congenital symmetric circumferential skin creases, also known as Michelin tire baby syndrome, is a rare genetic disorder characterized by generalized folding of excess skin. This feature was first described in 1969, then subsequent reports described variable additional features, such as intellectual disability (ID), facial dysmorphism, and cardiac and genital anomalies. It has been reported that mutations in either MAPRE2 or TUBB underlie the genetic origin of this syndrome. MAPRE2 encodes a member of the microtubule end-binding family of proteins that bind to the guanosine triphosphate cap at growing microtubule plus ends, and TUBB encodes a beta-tubulin isotype that is expressed abundantly in the developing brain.