Lissencephaly and Band Heterotopia: <i>LIS1</i>, <i>TUBA1A</i>, and <i>DCX</i> Mutations in Hungary

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  • Attila Mokánszki
    Department of Pediatrics, Clinical Genetic Center, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary
  • Ivett Körhegyi
    Department of Pediatrics, Clinical Genetic Center, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary
  • Nóra Szabó
    Department of Pediatrics, Faculty of Medicine, University of Szeged, Szeged, Hungary
  • Edit Bereg
    Department of Pediatrics, Faculty of Medicine, University of Szeged, Szeged, Hungary
  • Gyurgyinka Gergev
    Department of Pediatrics, Faculty of Medicine, University of Szeged, Szeged, Hungary
  • Erzsébet Balogh
    Department of Pediatrics, Clinical Genetic Center, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary
  • Beáta Bessenyei
    Department of Pediatrics, Clinical Genetic Center, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary
  • Andrea Sümegi
    Department of Pediatrics, Clinical Genetic Center, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary
  • Deborah J. Morris-Rosendahl
    Institute of Human Genetics, Albert-Ludwigs University of Freiburg, Freiburg, Germany
  • László Sztriha
    Department of Pediatrics, Faculty of Medicine, University of Szeged, Szeged, Hungary
  • Éva Oláh
    Department of Pediatrics, Clinical Genetic Center, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary

Abstract

<jats:p> 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. </jats:p>

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