KEGG   DISEASE: Lissencephaly
Entry
H00268                      Disease                                
Name
Lissencephaly
  Subgroup
Miller-Dieker syndrome (MDS)
  Supergrp
Neuronal migration disorder [DS:H01835]
Description
Lissencephaly (LIS), literally meaning smooth brain, is a severe neuronal migration disorder that ranges from agyria/pachygyria to subcortical band heterotopia.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD20  Syndromes with central nervous system anomalies as a major feature
    H00268  Lissencephaly
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06515  Regulation of kinetochore-microtubule interactions
   H00268  Lissencephaly
  nt06541  Cytoskeleton in neurons
   H00268  Lissencephaly
Pathway
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
Network
nt06515 Regulation of kinetochore-microtubule interactions
nt06541 Cytoskeleton in neurons
Gene
(LIS1/MDS) PAFAH1B1 [HSA:5048] [KO:K16794]
(LIS2) RELN [HSA:5649] [KO:K06249]
(LIS3) TUBA1A [HSA:7846] [KO:K07374]
(LIS4) NDE1 [HSA:54820] [KO:K16738]
(LIS5) LAMB1 [HSA:3912] [KO:K05636]
(LIS6) KATNB1 [HSA:10300] [KO:K18643]
(LIS7) CDK5 [HSA:1020] [KO:K02090]
(LIS8) TMTC3 [HSA:160418] [KO:K23424]
(LIS9) MACF1 [HSA:23499] [KO:K19827]
(LIS10) CEP85L [HSA:387119] [KO:K16766]
(LISX1) DCX [HSA:1641] [KO:K16579]
(LISX2) ARX [HSA:170302] [KO:K09452]
Other DBs
ICD-11: LD20.1
ICD-10: Q04.3
MeSH: D054082
OMIM: 607432 257320 611603 614019 615191 616212 616342 617255 618325 300067 300215 618873
Reference
  Authors
Guerrini R, Marini C
  Title
Genetic malformations of cortical development.
  Journal
Exp Brain Res 173:322-33 (2006)
DOI:10.1007/s00221-006-0501-z
Reference
  Authors
Kerjan G, Gleeson JG
  Title
Genetic mechanisms underlying abnormal neuronal migration in classical lissencephaly.
  Journal
Trends Genet 23:623-30 (2007)
DOI:10.1016/j.tig.2007.09.003
Reference
  Authors
Spalice A, Parisi P, Nicita F, Pizzardi G, Del Balzo F, Iannetti P
  Title
Neuronal migration disorders: clinical, neuroradiologic and genetics aspects.
  Journal
Acta Paediatr 98:421-33 (2009)
DOI:10.1111/j.1651-2227.2008.01160.x
Reference
PMID:19136950 (PAFAH1B1)
  Authors
Bi W, Sapir T, Shchelochkov OA, Zhang F, Withers MA, Hunter JV, Levy T, Shinder V, Peiffer DA, Gunderson KL, Nezarati MM, Shotts VA, Amato SS, Savage SK, Harris DJ, Day-Salvatore DL, Horner M, Lu XY, Sahoo T, Yanagawa Y, Beaudet AL, Cheung SW, Martinez S, Lupski JR, Reiner O
  Title
Increased LIS1 expression affects human and mouse brain development.
  Journal
Nat Genet 41:168-77 (2009)
DOI:10.1038/ng.302
Reference
PMID:10973257 (RELN)
  Authors
Hong SE, Shugart YY, Huang DT, Shahwan SA, Grant PE, Hourihane JO, Martin ND, Walsh CA
  Title
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations.
  Journal
Nat Genet 26:93-6 (2000)
DOI:10.1038/79246
Reference
PMID:17584854 (TUBA1A)
  Authors
Poirier K, Keays DA, Francis F, Saillour Y, Bahi N, Manouvrier S, Fallet-Bianco C, Pasquier L, Toutain A, Tuy FP, Bienvenu T, Joriot S, Odent S, Ville D, Desguerre I, Goldenberg A, Moutard ML, Fryns JP, van Esch H, Harvey RJ, Siebold C, Flint J, Beldjord C, Chelly J
  Title
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).
  Journal
Hum Mutat 28:1055-64 (2007)
DOI:10.1002/humu.20572
Reference
PMID:21529752 (NDE1)
  Authors
Bakircioglu M, Carvalho OP, Khurshid M, Cox JJ, Tuysuz B, Barak T, Yilmaz S, Caglayan O, Dincer A, Nicholas AK, Quarrell O, Springell K, Karbani G, Malik S, Gannon C, Sheridan E, Crosier M, Lisgo SN, Lindsay S, Bilguvar K, Gergely F, Gunel M, Woods CG
  Title
The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis.
  Journal
Am J Hum Genet 88:523-35 (2011)
DOI:10.1016/j.ajhg.2011.03.019
Reference
PMID:23472759 (LAMB1)
  Authors
Radmanesh F, Caglayan AO, Silhavy JL, Yilmaz C, Cantagrel V, Omar T, Rosti B, Kaymakcalan H, Gabriel S, Li M, Sestan N, Bilguvar K, Dobyns WB, Zaki MS, Gunel M, Gleeson JG
  Title
Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.
  Journal
Am J Hum Genet 92:468-74 (2013)
DOI:10.1016/j.ajhg.2013.02.005
Reference
PMID:25521378 (KATNB1)
  Authors
Mishra-Gorur K, Caglayan AO, Schaffer AE, Chabu C, Henegariu O, Vonhoff F, Akgumus GT, Nishimura S, Han W, Tu S, Baran B, Gumus H, Dilber C, Zaki MS, Hossni HA, Riviere JB, Kayserili H, Spencer EG, Rosti RO, Schroth J, Per H, Caglar C, Caglar C, Dolen D, Baranoski JF, Kumandas S, Minja FJ, Erson-Omay EZ, Mane SM, Lifton RP, Xu T, Keshishian H, Dobyns WB, Chi NC, Sestan N, Louvi A, Bilguvar K, Yasuno K, Gleeson JG, Gunel M
  Title
Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors.
  Journal
Neuron 84:1226-39 (2014)
DOI:10.1016/j.neuron.2014.12.014
Reference
PMID:25560765 (CDK5)
  Authors
Magen D, Ofir A, Berger L, Goldsher D, Eran A, Katib N, Nijem Y, Vlodavsky E, Tzur S, Behar DM, Fellig Y, Mandel H
  Title
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.
  Journal
Hum Genet 134:305-14 (2015)
DOI:10.1007/s00439-014-1522-5
Reference
PMID:27773428 (TMTC3)
  Authors
Jerber J, Zaki MS, Al-Aama JY, Rosti RO, Ben-Omran T, Dikoglu E, Silhavy JL, Caglar C, Musaev D, Albrecht B, Campbell KP, Willer T, Almuriekhi M, Caglayan AO, Vajsar J, Bilguvar K, Ogur G, Abou Jamra R, Gunel M, Gleeson JG
  Title
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.
  Journal
Am J Hum Genet 99:1181-1189 (2016)
DOI:10.1016/j.ajhg.2016.09.007
Reference
PMID:30471716 (MACF1)
  Authors
Dobyns WB, Aldinger KA, Ishak GE, Mirzaa GM, Timms AE, Grout ME, Dremmen MHG, Schot R, Vandervore L, van Slegtenhorst MA, Wilke M, Kasteleijn E, Lee AS, Barry BJ, Chao KR, Szczaluba K, Kobori J, Hanson-Kahn A, Bernstein JA, Carr L, D'Arco F, Miyana K, Okazaki T, Saito Y, Sasaki M, Das S, Wheeler MM, Bamshad MJ, Nickerson DA, Engle EC, Verheijen FW, Doherty D, Mancini GMS
  Title
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.
  Journal
Am J Hum Genet 103:1009-1021 (2018)
DOI:10.1016/j.ajhg.2018.10.019
Reference
PMID:32097630 (CEP85L)
  Authors
Tsai MH, Muir AM, Wang WJ, Kang YN, Yang KC, Chao NH, Wu MF, Chang YC, Porter BE, Jansen LA, Sebire G, Deconinck N, Fan WL, Su SC, Chung WH, Almanza Fuerte EP, Mehaffey MG, Ng CC, Chan CK, Lim KS, Leventer RJ, Lockhart PJ, Riney K, Damiano JA, Hildebrand MS, Mirzaa GM, Dobyns WB, Berkovic SF, Scheffer IE, Tsai JW, Mefford HC
  Title
Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.
  Journal
Neuron 106:237-245.e8 (2020)
DOI:10.1016/j.neuron.2020.01.027
Reference
PMID:18685874 (DCX)
  Authors
Leger PL, Souville I, Boddaert N, Elie C, Pinard JM, Plouin P, Moutard ML, des Portes V, Van Esch H, Joriot S, Renard JL, Chelly J, Francis F, Beldjord C, Bahi-Buisson N
  Title
The location of DCX mutations predicts malformation severity in X-linked lissencephaly.
  Journal
Neurogenetics 9:277-85 (2008)
DOI:10.1007/s10048-008-0141-5
Reference
PMID:12379852 (ARX)
  Authors
Kitamura K, Yanazawa M, Sugiyama N, Miura H, Iizuka-Kogo A, Kusaka M, Omichi K, Suzuki R, Kato-Fukui Y, Kamiirisa K, Matsuo M, Kamijo S, Kasahara M, Yoshioka H, Ogata T, Fukuda T, Kondo I, Kato M, Dobyns WB, Yokoyama M, Morohashi K
  Title
Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.
  Journal
Nat Genet 32:359-69 (2002)
DOI:10.1038/ng1009

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