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Pediatr Clin North Am. 2015 Jun;62(3):571-85. doi: 10.1016/j.pcl.2015.03.002. Epub 2015 Apr 1.

Genomic variants and variations in malformations of cortical development.

Author information

1
Department of Paediatrics, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore 229899, Singapore; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA; Paediatrics Academic Programme, Duke-NUS Graduate Medical School, 8 College Road, Singapore 169857, Singapore.
2
Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02138, USA. Electronic address: christopher.walsh@childrens.harvard.edu.

Abstract

Malformations of cortical development (MCDs) are a common cause of neurodevelopmental delay and epilepsy and are caused by disruptions in the normal development of the cerebral cortex. Several causative genes have been identified in patients with MCD. There is increasing evidence of role of de novo mutations, including those occurring post fertilization, in MCD. These somatic mutations may not be detectable by traditional methods of genetic testing performed on blood DNA. Identification of the genetic cause can help in guiding families in future pregnancies. Research has highlighted how elucidation of key molecular pathways can also allow for targeted therapeutic interventions.

KEYWORDS:

Cortical dysplasia; Genomic variants; Lissencephaly; Malformations of cortical development; Megalencephaly; Microcephaly; Polymicrogyria; Somatic mutation

PMID:
26022163
PMCID:
PMC4449454
DOI:
10.1016/j.pcl.2015.03.002
[Indexed for MEDLINE]
Free PMC Article

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