Lissencephaly and band heterotopia: LIS1, TUBA1A, and DCX mutations in Hungary

Attila Mokánszki, Ivett Körhegyi, Nóra Szabó, Edit Bereg, Gyurgyinka Gergev, Erzsébet Balogh, Beáta Bessenyei, Andrea Sümegi, Deborah J. Morris-Rosendahl, László Sztriha, Éva Oláh

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

The spectrum of lissencephaly ranges from absent (agyria) or decreased (pachygyria) convolutions to less severe malformation known as subcortical band heterotopia. Mutations involving LIS1 and TUBA1A result in the classic form of lissencephaly, whereas mutations of the DCX gene cause lissencephaly in males and subcortical band heterotopia in females. This report describes the clinical manifestations and imaging and genetic findings in 2 boys with lissencephaly and a girl with subcortical band heterotopia. An ovel mutation (c.83-84delAT, p.Tyr28Phefs*31) was identified in LIS1 in 1 of the boys with lissencephaly and another novel mutation (c.200delG, p.Ile68Leufs*87) was found in DCX in the girl with subcortical band heterotopia. The mutations appeared in the first half of the genes and are predicted to result in truncated proteins. A mutation was found in the TUBA1A gene (c.1205G>A, p.Arg402His) in the other boy. This mutation affects the folding of tubulin heterodimers, changing the interactions with proteins that bind microtubules.

Original languageEnglish
Pages (from-to)1534-1540
Number of pages7
JournalJournal of Child Neurology
Volume27
Issue number12
DOIs
Publication statusPublished - Dec 1 2012

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Keywords

  • DCX
  • LIS1 (PAFAH1B1)
  • TUBA1A
  • agyria
  • lissencephaly
  • pachygyria
  • subcortical band heterotopia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

Cite this

Mokánszki, A., Körhegyi, I., Szabó, N., Bereg, E., Gergev, G., Balogh, E., Bessenyei, B., Sümegi, A., Morris-Rosendahl, D. J., Sztriha, L., & Oláh, É. (2012). Lissencephaly and band heterotopia: LIS1, TUBA1A, and DCX mutations in Hungary. Journal of Child Neurology, 27(12), 1534-1540. https://doi.org/10.1177/0883073811436326