Lissencephaly 2

Common Name(s)

Lissencephaly 2

Lissencephaly 2 is an inherited condition characterized by classical lissencephaly in association with certain abnormalities of the skull and facial (craniofacial) region, such as a low, sloping forehead; abnormal prominence of the back portion of the head (occiput); a broad, prominent nasal bridge; and widely set eyes (ocular hypertelorism). Additional symptoms and findings typically include severe or profound intellectual disability, seizures, abnormally increased muscle tone (hypertonia), exaggerated reflexes (hyperreflexia), and severe growth failure. This condition is inherited in an autosomal recessive fashion.  Mutations in the RELN gene have been identified in some affected individuals.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Lissencephaly 2" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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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 2" returned 5 free, full-text research articles on human participants. First 3 results:

Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.
 

Author(s): Nataliya Di Donato, Ying Y Jean, A Murat Maga, Briana D Krewson, Alison B Shupp, Maria I Avrutsky, Achira Roy, Sarah Collins, Carissa Olds, Rebecca A Willert, Agnieszka M Czaja, Rachel Johnson, Jessi A Stover, Steven Gottlieb, Deborah Bartholdi, Anita Rauch, Amy Goldstein, Victoria Boyd-Kyle, Kimberly A Aldinger, Ghayda M Mirzaa, Anke Nissen, Karlla W Brigatti, Erik G Puffenberger, Kathleen J Millen, Kevin A Strauss, William B Dobyns, Carol M Troy, Robert N Jinks

Journal: Am. J. Hum. Genet.. 2016 Nov;99(5):1117-1129.

 

Lissencephaly is a malformation of cortical development typically caused by deficient neuronal migration resulting in cortical thickening and reduced gyration. Here we describe a "thin" lissencephaly (TLIS) variant characterized by megalencephaly, frontal predominant pachygyria, intellectual ...

Last Updated: 24 Oct 2016

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Ventriculomegaly, intrauterine growth restriction, and congenital heart defects as salient prenatal sonographic findings of Miller-Dieker lissencephaly syndrome associated with monosomy 17p (17p13.2 --> pter) in a fetus.
 

Author(s): Chih-Ping Chen, Yu-Peng Liu, Shaun-Pei Lin, Ming Chen, Fuu-Jen Tsai, Yu-Ting Chen, Li-Feng Chen, Jonathan Kwei Hwang, Wayseen Wang

Journal: Taiwan J Obstet Gynecol. 2010 Mar;49(1):81-6.

 

To present the prenatal sonographic findings of Miller-Dieker lissencephaly syndrome (MDLS) associated with monosomy 17p (17p13.2 --> pter) in a fetus.

Last Updated: 14 May 2010

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Cortical dysplasia resembling human type 2 lissencephaly in mice lacking all three APP family members.
 

Author(s): Jochen Herms, Brigitte Anliker, Sabine Heber, Sabine Ring, Martin Fuhrmann, Hans Kretzschmar, Sangram Sisodia, Ulrike Müller

Journal: EMBO J.. 2004 Oct;23(20):4106-15.

 

The Alzheimer's disease beta-amyloid precursor protein (APP) is a member of a larger gene family that includes the amyloid precursor-like proteins, termed APLP1 and APLP2. We previously documented that APLP2-/-APLP1-/- and APLP2-/-APP-/- mice die postnatally, while APLP1-/-APP-/- ...

Last Updated: 13 Oct 2004

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Lissencephaly 2" returned 1 free, full-text review articles on human participants. First 3 results:

Prenatal Diagnosis of Lissencephaly Type 2 using Three-dimensional Ultrasound and Fetal MRI: Case Report and Review of the Literature.
 

Author(s): Gabriele Tonni, Pierpaolo Pattacini, Maria Paola Bonasoni, Edward Araujo Júnior

Journal: Rev Bras Ginecol Obstet. 2016 Apr;38(4):201-6.

 

Lissencephaly is a genetic heterogeneous autosomal recessive disorder characterized by the classical triad: brain malformations, eye anomalies, and congenital muscular dystrophy. Prenatal diagnosis is feasible by demonstrating abnormal development of sulci and gyri. Magnetic resonance ...

Last Updated: 30 Apr 2016

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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: Congenital Muscular Dystrophy (Including Unspecified/Undiagnosed); Dystroglycanopathy; Congenital Fiber Type Disproportion; Rigid Spine Muscular Dystrophy; Congenital Myopathy (Including Unspecified/Undiagnosed); Collagen VI CMD (Ullrich CMD, Intermediate, Bethlem Myopathy); Laminin Alpha 2 Related Congenital Muscular Dystrophy; LAMA2-CMD/Merosin Deficient/MDC1A; Walker-Warburg Syndrome; Muscle-Eye-Brain Disease; Fukuyama/Fukutin Related Muscular Dystrophy; Integrin Alpha 7 Deficiency; Integrin Alpha 9 Deficiency; LMNA-CMD/Lamin A/C/Laminopathy; SEPN1-Related Myopathy; Bethlem Myopathy; 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 Myopathy; Reducing Body Myopathy; Spheroid Body Myopathy; LGMD1B (LMNA); LGMD1E (DES); LGMD2G (TCAP); LGMD2H (TRIM32); LGMD2I (FKRP); LGMD2J (TTN); LGMD2K (POMT1); LGMD2M (FKTN); LGMD2N (POMT2); LGMD2O (POMGnT1); LGMD2P (DAG1); LGMD2Q (PLEC1); LGMD2R (DES); LGMD2S (TRAPPC11); LGMD2T (GMPPB); LGMD2U (ISPD); LGMD2V (GAA); Ullrich Congenital Muscular Dystrophy; Titinopathy; Choline Kinase B Receptor; Emery-Dreifuss Muscular Dystrophy; RYR1 Related Myopathy; SYNE1/Nesprin Related Muscular Dystrophy; Telethonin Related Muscular Dystrophy (TCAP/Titin-Cap); Congenital Myasthenic Syndrome; Escobar Syndrome; Myofibrillar Myopathy; Malignant Hyperthermia; Alpha-Dystroglycan Related Muscular Dystrophy (DAG1, DPM1, DPM2, DPM3, FKRP, FKTN); Alpha-Dystroglycan Related Muscular Dystrophy (GAA, ISPD, LARGE, POMT1, POMT2, POMGnT1); Alpha-Dystroglycan Related Muscular Dystrophy (Unspecified/Undiagnosed/Other)

 

Last Updated: 5 May 2017

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