Lissencephaly 1

Common Name(s)

Lissencephaly 1

Lissencephaly (LIS), literally meaning smooth brain, is characterized by smooth or nearly smooth cerebral surface and a paucity of gyral and sulcal development, encompassing a spectrum of brain surface malformations ranging from complete agyria to subcortical band heterotopia (SBH). Classic lissencephaly is associated with an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia. SBH consists of circumferential bands of heterotopic neurons located just beneath the cortex and separated from it by a thin band of white matter. SBH represents the less severe end of the lissencephaly spectrum of malformations ({16:Pilz et al., 1999}, summary by {12:Kato and Dobyns, 2003}). Agyria, i.e., brain without convolutions or gyri, was considered a rare malformation until recent progress in neuroradiology ({1:Bordarier et al., 1986}). With this technical advantage, a number of lissencephaly syndromes have been distinguished. Classic lissencephaly (formerly type I) is a brain malformation caused by abnormal neuronal migration at 9 to 13 weeks' gestation, resulting in a spectrum of agyria, mixed agyria/pachygyria, and pachygyria. It is characterized by an abnormally thick and poorly organized cortex with 4 primitive layers, diffuse neuronal heterotopia, enlarged and dysmorphic ventricles, and often hypoplasia of the corpus callosum. ({14:Lo Nigro et al., 1997}). {12:Kato and Dobyns (2003)} presented a classification system for neuronal migration disorders based on brain imaging findings and molecular analysis. The authors also reviewed the contributions and interactions of the 5 genes then known to cause human lissencephaly: LIS1 or PAFAH1B1, 14-3-3-epsilon (YWHAE), DCX, RELN, and ARX. Genetic Heterogeneity of Lissencephaly Lissencephaly is a genetically heterogeneous disorder. See also LIS2 ({257320}), caused by mutation in the RELN gene ({600514}) on chromosome 7q22; LIS3 ({611603}), caused by mutation in the TUBA1A gene ({602529}) on chromosome 12q13; LIS4 ({614019}), caused by mutation in the NDE1 gene ({609449}) on chromosome 16p13; LIS5 ({615191}), caused by mutation in the LAMB1 gene ({150240}) on chromosome 7q; LIS6 ({616212}), caused by mutation in the KATNB1 gene ({602703}) on chromosome 16q21; and LIS7 ({616342}), caused by mutation in the CDK5 gene ({123831}) on chromosome 7q36. X-linked forms include LISX1 ({300067}), caused by mutation in the DCX gene ({300121}) on chromosome Xq22.3-q23, and LISX2 ({300215}), caused by mutation in the ARX gene ({300382}) on chromosome Xp22.3-p21.1. See also Miller-Dieker lissencephaly syndrome (MDLS; {247200}), a contiguous gene microdeletion syndrome involving chromosome 17p13 and including the PAFAH1B1 and YWHAE ({605066}) genes. Lissencephaly caused by mutations in the PAFAH1B1 gene is also called 'isolated' lissencephaly to distinguish it from the accompanying features of MDLS.
 

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Lissencephaly 1" returned 6 free, full-text research articles on human participants. First 3 results:

Prenatal diagnosis of a de novo 17p13.1 microduplication in a fetus with ventriculomegaly and lissencephaly.
 

Author(s): Chih-Ping Chen, Yi-Ning Su, Chin-Yuan Hsu, Yu-Peng Liu, Schu-Rern Chern, Li-Feng Chen, Wayseen Wang

Journal: Taiwan J Obstet Gynecol. 2011 Dec;50(4):554-7.

 

Last Updated: 3 Jan 2012

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Long-term follow-up of type 1 lissencephaly: survival is related to neuroimaging abnormalities.
 

Author(s): Marie-Claire Y de Wit, Jojanneke de Rijk-van Andel, Dicky J Halley, Pino J Poddighe, Willem Frans M Arts, Irenaeus F M de Coo, Grazia M S Mancini

Journal: Dev Med Child Neurol. 2011 May;53(5):417-21.

 

To evaluate survival, clinical, and genetic characteristics of all patients with classic or type 1 lissencephaly born between 1972 and 1990 in the Netherlands, who at the time were enrolled in an observational study.

Last Updated: 12 Apr 2011

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The L279P mutation of nuclear distribution gene C (NudC) influences its chaperone activity and lissencephaly protein 1 (LIS1) stability.
 

Author(s): Xiao-Jing Zhu, Xunyan Liu, Qi Jin, Yuqi Cai, Yuehong Yang, Tianhua Zhou

Journal: J. Biol. Chem.. 2010 Sep;285(39):29903-10.

 

LIS1, a gene mutated in classical lissencephaly, plays essential roles in cytoplasmic dynein regulation, mitosis and cell migration. However, the regulation of LIS1 (lissencephaly protein 1) protein remains largely unknown. Genetic studies in Aspergillus nidulans have uncovered that ...

Last Updated: 20 Sep 2010

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The terms "Lissencephaly 1" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Congenital Muscle Disease Study of Patient and Family Reported Medical Information
 

Status: Recruiting

Condition Summary: Muscular Dystrophy; Congenital Muscular Dystrophy; Fukutin-related Protein Gene; Limb Girdle; FKRP Gene; Childhood Onset LGMD; Adult Onset LGMD; POMT1; POMT2; POMGnT1; LARGE; Alpha Dystroglycan; Dystroglycanopathy; Centronuclear; Multiminicore; Multicore; Minicore; Congenital Fiber Type Disproportion; Myotubular; Nemaline; Congenital Myopathy; Neuromuscular; Rigid Spine; Phenotype-Genotype Correlation; Cough Assisted Device; Neuromuscular Disease; Respiratory Exacerbation; Invasive Ventilation; Chest Physiotherapy; Congenital Myopathies; Genetic Mutations; Hypertrophic Cardiomyopathy; Wheelchair Use; Cataract; Opthalmoplegia; Ullrich Congenital Muscular Dystrophy; Intermediate Collagen VI Myopathy; Laminin Alpha 2 Related Congenital Muscular Dystrophy; MDC1A; Merosin Deficient Congenital Muscular Dystrophy; Congenital Muscular Dystrophy Undiagnosed; Congenital Muscular Dystrophy Merosin Positive; Walker Warburg Syndrome; Muscle Eye Brain Disease; Fukuyama; Integrin Alpha 7 Deficiency; Integrin Alpha 9 Deficiency; Laminopathy; Lamin AC; SEPN 1 Related Myopathies; Bethlem Myopathy; Dystroglycanopathies; LGMD2K; LGMD2I; LGMD2L; LGMD2N; Actin Aggregation Myopathy; Cap Disease; Central Core Disease; Centronuclear Myopathy; Core Rod Myopathy; Hyaline Body Myopathy; Multiminicore Myopathy; Myotubular Myopathy; Nemaline Myopathy; Tubular Aggregate Myopathy; Zebra Body Disease Myopathy; Congenital Myopathy Other; Reducing Body Myopathy; Sarcotubular Myopathy; Spheroid Body Myopathy

 

Last Updated: 5 Oct 2015

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