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
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- Ivett Körhegyi
- Department of Pediatrics, Clinical Genetic Center, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary
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- Nóra Szabó
- Department of Pediatrics, Faculty of Medicine, University of Szeged, Szeged, Hungary
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- Edit Bereg
- Department of Pediatrics, Faculty of Medicine, University of Szeged, Szeged, Hungary
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- Gyurgyinka Gergev
- Department of Pediatrics, Faculty of Medicine, University of Szeged, Szeged, Hungary
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- Erzsébet Balogh
- Department of Pediatrics, Clinical Genetic Center, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary
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- Beáta Bessenyei
- Department of Pediatrics, Clinical Genetic Center, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary
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- Andrea Sümegi
- Department of Pediatrics, Clinical Genetic Center, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary
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- Deborah J. Morris-Rosendahl
- Institute of Human Genetics, Albert-Ludwigs University of Freiburg, Freiburg, Germany
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- László Sztriha
- Department of Pediatrics, Faculty of Medicine, University of Szeged, Szeged, Hungary
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- Éva Oláh
- Department of Pediatrics, Clinical Genetic Center, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary
Description
<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>
Journal
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- Journal of Child Neurology
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Journal of Child Neurology 27 (12), 1534-1540, 2012-03-08
SAGE Publications
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Details 詳細情報について
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- CRID
- 1360574095718816896
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- ISSN
- 17088283
- 08830738
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- Data Source
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- Crossref