| H00268 | |
| H番号 | H00268 |
| 名称 | 滑脳症 |
| 概要 | Lissencephaly (LIS), literally meaning smooth brain, is a severe neuronal migration disorder that ranges from agyria/pachygyria to subcortical band heterotopia. |
| カテゴリ | 先天奇形 |
| ネットワーク | nt06515 Regulation of kinetochore-microtubule interactions |
| 病因遺伝子 | (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD20.1 ICD-10: Q04.3 MeSH: D054082 OMIM: 607432 257320 611603 614019 615191 616212 616342 617255 618325 300067 300215 618873 |
| 文献 | PMID:16724181 著者 Guerrini R, Marini C タイトル Genetic malformations of cortical development. 雑誌 Exp Brain Res 173:322-33 (2006) DOI:10.1007/s00221-006-0501-z PMID:17997185 著者 Kerjan G, Gleeson JG タイトル Genetic mechanisms underlying abnormal neuronal migration in classical lissencephaly. 雑誌 Trends Genet 23:623-30 (2007) DOI:10.1016/j.tig.2007.09.003 PMID:19120042 著者 Spalice A, Parisi P, Nicita F, Pizzardi G, Del Balzo F, Iannetti P タイトル Neuronal migration disorders: clinical, neuroradiologic and genetics aspects. 雑誌 Acta Paediatr 98:421-33 (2009) DOI:10.1111/j.1651-2227.2008.01160.x PMID:19136950 (PAFAH1B1) 著者 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 タイトル Increased LIS1 expression affects human and mouse brain development. 雑誌 Nat Genet 41:168-77 (2009) DOI:10.1038/ng.302 PMID:10973257 (RELN) 著者 Hong SE, Shugart YY, Huang DT, Shahwan SA, Grant PE, Hourihane JO, Martin ND, Walsh CA タイトル Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. 雑誌 Nat Genet 26:93-6 (2000) DOI:10.1038/79246 PMID:17584854 (TUBA1A) 著者 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 タイトル Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). 雑誌 Hum Mutat 28:1055-64 (2007) DOI:10.1002/humu.20572 PMID:21529752 (NDE1) 著者 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 タイトル The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis. 雑誌 Am J Hum Genet 88:523-35 (2011) DOI:10.1016/j.ajhg.2011.03.019 PMID:23472759 (LAMB1) 著者 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 タイトル Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. 雑誌 Am J Hum Genet 92:468-74 (2013) DOI:10.1016/j.ajhg.2013.02.005 PMID:25521378 (KATNB1) 著者 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 タイトル Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors. 雑誌 Neuron 84:1226-39 (2014) DOI:10.1016/j.neuron.2014.12.014 PMID:25560765 (CDK5) 著者 Magen D, Ofir A, Berger L, Goldsher D, Eran A, Katib N, Nijem Y, Vlodavsky E, Tzur S, Behar DM, Fellig Y, Mandel H タイトル Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5. 雑誌 Hum Genet 134:305-14 (2015) DOI:10.1007/s00439-014-1522-5 PMID:27773428 (TMTC3) 著者 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 タイトル Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly. 雑誌 Am J Hum Genet 99:1181-1189 (2016) DOI:10.1016/j.ajhg.2016.09.007 PMID:30471716 (MACF1) 著者 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 タイトル MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. 雑誌 Am J Hum Genet 103:1009-1021 (2018) DOI:10.1016/j.ajhg.2018.10.019 PMID:32097630 (CEP85L) 著者 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 タイトル Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly. 雑誌 Neuron 106:237-245.e8 (2020) DOI:10.1016/j.neuron.2020.01.027 PMID:18685874 (DCX) 著者 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 タイトル The location of DCX mutations predicts malformation severity in X-linked lissencephaly. 雑誌 Neurogenetics 9:277-85 (2008) DOI:10.1007/s10048-008-0141-5 PMID:12379852 (ARX) 著者 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 タイトル Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. 雑誌 Nat Genet 32:359-69 (2002) DOI:10.1038/ng1009 |