The genetics of lissencephaly

Lissencephaly is a spectrum of severe brain malformations caused by the failure of migrating neurons to reach optimal positions in the developing cerebral cortex. Several syndromes associated with lissencephaly have been characterized in recent years. Identification of the genetic basis of these dis...

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Bibliographic Details
Published in:American journal of medical genetics. Part C, Seminars in medical genetics Seminars in medical genetics, 2014-06, Vol.166C (2), p.198-210
Main Authors: Fry, Andrew E., Cushion, Thomas D., Pilz, Daniela T.
Format: Article
Language:English
Subjects:
agyria
Animals
DCX
Genetic Heterogeneity
Genetics
Humans
LIS1
lissencephaly
Lissencephaly - genetics
Lissencephaly - pathology
Magnetic Resonance Imaging
Mutation
Neuroimaging
pachygyria
PAFAH1B1
Phenotype
subcortical band heterotopia
TUBA1A
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Summary:Lissencephaly is a spectrum of severe brain malformations caused by the failure of migrating neurons to reach optimal positions in the developing cerebral cortex. Several syndromes associated with lissencephaly have been characterized in recent years. Identification of the genetic basis of these disorders has brought fascinating insights into the mechanisms of brain development, as well as benefits to patients through improved molecular diagnosis and genetic counseling. This review explores the clinical presentation, radiological features, histological findings and molecular basis of lissencephaly with the aim of facilitating the selection and interpretation of gene tests in patients with ‘smooth brain’ phenotypes. © 2014 Wiley Periodicals, Inc.
ISSN:1552-4868
1552-4876
DOI:10.1002/ajmg.c.31402