A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicism

Aleksandra Mineyko, Asif Doja, Julie Hurteau, William B. Dobyns, Soma Das, Kym M. Boycott

Research output: Contribution to journalArticlepeer-review

9 Scopus citations

Abstract

Mutations in the LIS1 gene result in isolated lissencephaly or subcortical band heterotopia. We report a 5-year-old male who presented with seizures and global developmental delay. Magnetic resonance imaging (MRI) demonstrated posteriorly predominant pachygyria and subcortical band heterotopia. His mother had a history of epilepsy, with onset in her teenage years. Her MRI revealed no abnormalities. Sequence analysis of the LIS1 gene identified a novel p.H389Y mutation in exon 11 (c.1165C>T). The child's mother was found to have the identical mutation as her son, with the signal intensity of the mutant allele being much lower than the normal allele, suggesting somatic mosaicism. This patient is one of only a few reported with a missense mutation in LIS1 associated with subcortical band heterotopia, and this is the first report of a mosaic individual having an affected child.

Original languageEnglish (US)
Pages (from-to)738-741
Number of pages4
JournalJournal of Child Neurology
Volume25
Issue number6
DOIs
StatePublished - Jun 2010
Externally publishedYes

Keywords

  • Lissencephaly
  • Somatic mosaicism
  • Subcortical band heterotopia

Fingerprint Dive into the research topics of 'A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicism'. Together they form a unique fingerprint.

Cite this