| H00268 | |
| H number | H00268 |
| Name | Lissencephaly |
| 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 |
| Network | nt06515 Regulation of kinetochore-microtubule interactions |
| 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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| 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 | PMID:16724181 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 PMID:17997185 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 PMID:19120042 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 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 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 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 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 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 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 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 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 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 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 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 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 |