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Lissencephaly type 3

MedGen UID:
369910
•Concept ID:
C1969029
•
Disease or Syndrome
Synonym: Lissencephaly 3
SNOMED CT: Type 3 lissencephaly (1003444000)
 
Monarch Initiative: MONDO:0015148
Orphanet: ORPHA102011

Professional guidelines

PubMed

Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders.
Geis T, Rödl T, Topaloğlu H, Balci-Hayta B, Hinreiner S, Müller-Felber W, Schoser B, Mehraein Y, Hübner A, Zirn B, Hoopmann M, Reutter H, Mowat D, Schuierer G, Schara U, Hehr U, Kölbel H
Orphanet J Rare Dis 2019 Jul 16;14(1):179. doi: 10.1186/s13023-019-1119-0. PMID: 31311558Free PMC Article
Respiratory management of patients with Fukuyama congenital muscular dystrophy.
Sato T, Murakami T, Ishiguro K, Shichiji M, Saito K, Osawa M, Nagata S, Ishigaki K
Brain Dev 2016 Mar;38(3):324-30. Epub 2015 Sep 9 doi: 10.1016/j.braindev.2015.08.010. PMID: 26363734
Seizure-genotype relationship in Fukuyama-type congenital muscular dystrophy.
Yoshioka M, Higuchi Y, Fujii T, Aiba H, Toda T
Brain Dev 2008 Jan;30(1):59-67. Epub 2007 Jun 26 doi: 10.1016/j.braindev.2007.05.012. PMID: 17597323

Recent clinical studies

Etiology

Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.
Blayney GV, Laffan E, Jacob PA, Baptiste CD, Gabriel H, Sparks TN, Yaron Y, Norton ME, Diderich K, Wang Y, Chong K, Chitayat D, Saini N, Aggarwal S, Pauta M, Borrell A, Gilmore K, Chandler NJ, Allen S, Vora N, Noor A, Monaghan C, Kilby MD, Wapner RJ, Chitty LS, Mone F
Prenat Diagn 2024 Apr;44(4):422-431. Epub 2023 Dec 6 doi: 10.1002/pd.6466. PMID: 38054560Free PMC Article
Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples.
Peluso F, Caraffi SG, Zuntini R, Trimarchi G, Ivanovski I, Valeri L, Barbieri V, Marinelli M, Pancaldi A, Melli N, Cesario C, Agolini E, Cellini E, Radio FC, Crisafi A, Napoli M, Guerrini R, Tartaglia M, Novelli A, Gargano G, Zuffardi O, Garavelli L
Genes (Basel) 2021 Jun 24;12(7) doi: 10.3390/genes12070962. PMID: 34202629Free PMC Article
Genetic basis in epilepsies caused by malformations of cortical development and in those with structurally normal brain.
Andrade DM
Hum Genet 2009 Jul;126(1):173-93. Epub 2009 Jun 18 doi: 10.1007/s00439-009-0702-1. PMID: 19536565
Glyc-O-genetics of Walker-Warburg syndrome.
van Reeuwijk J, Brunner HG, van Bokhoven H
Clin Genet 2005 Apr;67(4):281-9. doi: 10.1111/j.1399-0004.2004.00368.x. PMID: 15733261
Epidemiology of lissencephaly type I.
de Rijk-van Andel JF, Arts WF, Hofman A, Staal A, Niermeijer MF
Neuroepidemiology 1991;10(4):200-4. doi: 10.1159/000110270. PMID: 1745330

Diagnosis

Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.
Blayney GV, Laffan E, Jacob PA, Baptiste CD, Gabriel H, Sparks TN, Yaron Y, Norton ME, Diderich K, Wang Y, Chong K, Chitayat D, Saini N, Aggarwal S, Pauta M, Borrell A, Gilmore K, Chandler NJ, Allen S, Vora N, Noor A, Monaghan C, Kilby MD, Wapner RJ, Chitty LS, Mone F
Prenat Diagn 2024 Apr;44(4):422-431. Epub 2023 Dec 6 doi: 10.1002/pd.6466. PMID: 38054560Free PMC Article
Noninvasive prenatal test of single-gene disorders by linked-read direct haplotyping: application in various diseases.
Lee JS, Lee KB, Song H, Sun C, Kim MJ, Cho SI, Lee YK, Park SS, Seong MW
Eur J Hum Genet 2021 Mar;29(3):463-470. Epub 2020 Nov 24 doi: 10.1038/s41431-020-00759-9. PMID: 33235377Free PMC Article
Congenital muscular dystrophy-dystroglycanopathy, type A, featuring bilateral retinal dysplasia and vertical angle kappa.
Peiris TJ, Indaram M, Koo E, Soul JS, Hunter DG
J AAPOS 2018 Jun;22(3):242-244.e1. Epub 2018 Mar 16 doi: 10.1016/j.jaapos.2017.12.011. PMID: 29555514
Lissencephaly type I.
Leventer R
Handb Clin Neurol 2008;87:205-18. doi: 10.1016/S0072-9752(07)87013-8. PMID: 18809027
Molecular pathology of human cerebral malformations.
Mizuguchi M
Congenit Anom (Kyoto) 2003 Mar;43(1):22-8. doi: 10.1111/j.1741-4520.2003.tb01023.x. PMID: 12692400

Therapy

Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.
Blayney GV, Laffan E, Jacob PA, Baptiste CD, Gabriel H, Sparks TN, Yaron Y, Norton ME, Diderich K, Wang Y, Chong K, Chitayat D, Saini N, Aggarwal S, Pauta M, Borrell A, Gilmore K, Chandler NJ, Allen S, Vora N, Noor A, Monaghan C, Kilby MD, Wapner RJ, Chitty LS, Mone F
Prenat Diagn 2024 Apr;44(4):422-431. Epub 2023 Dec 6 doi: 10.1002/pd.6466. PMID: 38054560Free PMC Article
Lissencephaly in an epilepsy cohort: Molecular, radiological and clinical aspects.
Kolbjer S, Martin DA, Pettersson M, Dahlin M, Anderlid BM
Eur J Paediatr Neurol 2021 Jan;30:71-81. Epub 2021 Jan 8 doi: 10.1016/j.ejpn.2020.12.011. PMID: 33453472
Congenital muscular dystrophy-dystroglycanopathy, type A, featuring bilateral retinal dysplasia and vertical angle kappa.
Peiris TJ, Indaram M, Koo E, Soul JS, Hunter DG
J AAPOS 2018 Jun;22(3):242-244.e1. Epub 2018 Mar 16 doi: 10.1016/j.jaapos.2017.12.011. PMID: 29555514
Carnitine-related hypoglycemia caused by 3 days of pivalate antibiotic therapy in a patient with severe muscular dystrophy: a case report.
Ito M, Fukuda M, Suzuki Y, Wakamoto H, Ishii E
BMC Pediatr 2017 Mar 14;17(1):73. doi: 10.1186/s12887-017-0835-7. PMID: 28292283Free PMC Article
Hot water epilepsy with pachygyria.
Hizem Y, Gargouri A, Ben Djebara M, Kacem I, Abdelkefi I, Jemli F, Gouider R
Neurol Sci 2012 Jun;33(3):631-3. Epub 2011 Sep 20 doi: 10.1007/s10072-011-0780-4. PMID: 21932090

Prognosis

Noninvasive prenatal test of single-gene disorders by linked-read direct haplotyping: application in various diseases.
Lee JS, Lee KB, Song H, Sun C, Kim MJ, Cho SI, Lee YK, Park SS, Seong MW
Eur J Hum Genet 2021 Mar;29(3):463-470. Epub 2020 Nov 24 doi: 10.1038/s41431-020-00759-9. PMID: 33235377Free PMC Article
Carnitine-related hypoglycemia caused by 3 days of pivalate antibiotic therapy in a patient with severe muscular dystrophy: a case report.
Ito M, Fukuda M, Suzuki Y, Wakamoto H, Ishii E
BMC Pediatr 2017 Mar 14;17(1):73. doi: 10.1186/s12887-017-0835-7. PMID: 28292283Free PMC Article
Phenotypic spectrum of Fukutinopathy: most severe phenotype of Fukutinopathy.
Yoshioka M
Brain Dev 2009 Jun;31(6):419-22. Epub 2008 Oct 2 doi: 10.1016/j.braindev.2008.07.012. PMID: 18834683
Preserved merosin M-chain (or laminin-alpha 2) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy.
Voit T, Sewry CA, Meyer K, Hermann R, Straub V, Muntoni F, Kahn T, Unsöld R, Helliwell TR, Appleton R
Neuropediatrics 1995 Jun;26(3):148-55. doi: 10.1055/s-2007-979745. PMID: 7477753
Epidemiology of lissencephaly type I.
de Rijk-van Andel JF, Arts WF, Hofman A, Staal A, Niermeijer MF
Neuroepidemiology 1991;10(4):200-4. doi: 10.1159/000110270. PMID: 1745330

Clinical prediction guides

Lissencephaly in an epilepsy cohort: Molecular, radiological and clinical aspects.
Kolbjer S, Martin DA, Pettersson M, Dahlin M, Anderlid BM
Eur J Paediatr Neurol 2021 Jan;30:71-81. Epub 2021 Jan 8 doi: 10.1016/j.ejpn.2020.12.011. PMID: 33453472
Hot water epilepsy with pachygyria.
Hizem Y, Gargouri A, Ben Djebara M, Kacem I, Abdelkefi I, Jemli F, Gouider R
Neurol Sci 2012 Jun;33(3):631-3. Epub 2011 Sep 20 doi: 10.1007/s10072-011-0780-4. PMID: 21932090
Phenotypic spectrum of Fukutinopathy: most severe phenotype of Fukutinopathy.
Yoshioka M
Brain Dev 2009 Jun;31(6):419-22. Epub 2008 Oct 2 doi: 10.1016/j.braindev.2008.07.012. PMID: 18834683
MRI-neuropathological correlations in type 1 lissencephaly.
Landrieu P, Husson B, Pariente D, Lacroix C
Neuroradiology 1998 Mar;40(3):173-6. doi: 10.1007/s002340050562. PMID: 9561523
Clinical and molecular genetic findings in five patients with Miller-Dieker syndrome.
Köhler A, Hain J, Müller U
Clin Genet 1995 Mar;47(3):161-4. doi: 10.1111/j.1399-0004.1995.tb03951.x. PMID: 7634541

Recent systematic reviews

Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.
Blayney GV, Laffan E, Jacob PA, Baptiste CD, Gabriel H, Sparks TN, Yaron Y, Norton ME, Diderich K, Wang Y, Chong K, Chitayat D, Saini N, Aggarwal S, Pauta M, Borrell A, Gilmore K, Chandler NJ, Allen S, Vora N, Noor A, Monaghan C, Kilby MD, Wapner RJ, Chitty LS, Mone F
Prenat Diagn 2024 Apr;44(4):422-431. Epub 2023 Dec 6 doi: 10.1002/pd.6466. PMID: 38054560Free PMC Article

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