title: Lissencephaly and band heterotopia: LIS1, TUBA1A, and DCX mutations in Hungary.
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.
authors.affiliation: Department of Pediatrics, Clinical Genetic Center, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary.
authors.forename: Attila
authors.initials: A
authors.lastname: Mokánszki
authors.forename: Ivett
authors.initials: I
authors.lastname: Körhegyi
authors.forename: Nóra
authors.initials: N
authors.lastname: Szabó
authors.forename: Edit
authors.initials: E
authors.lastname: Bereg
authors.forename: Gyurgyinka
authors.initials: G
authors.lastname: Gergev
authors.forename: Erzsébet
authors.initials: E
authors.lastname: Balogh
authors.forename: Beáta
authors.initials: B
authors.lastname: Bessenyei
authors.forename: Andrea
authors.initials: A
authors.lastname: Sümegi
authors.forename: Deborah J
authors.initials: DJ
authors.lastname: Morris-Rosendahl
authors.forename: László
authors.initials: L
authors.lastname: Sztriha
authors.forename: Eva
authors.initials: E
authors.lastname: Oláh
mesh_terms: D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase / Q000235:genetics*; D001921:Brain / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D054221:Classical Lissencephalies and Subcortical Band Heterotopias / Q000235:genetics*; D004252:DNA Mutational Analysis; D000089622:Doublecortin Domain Proteins; D000089662:Doublecortin Protein; D004569:Electroencephalography; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D006814:Hungary / Q000453:epidemiology; D008279:Magnetic Resonance Imaging; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009479:Neuropeptides / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D014404:Tubulin / Q000235:genetics*
chemical_list: C000714328:DCX protein, human; D000089622:Doublecortin Domain Proteins; D000089662:Doublecortin Protein; D008869:Microtubule-Associated Proteins; D009479:Neuropeptides; C533522:TUBA1A protein, human; D014404:Tubulin; D043203:1-Alkyl-2-acetylglycerophosphocholine Esterase; C084102:PAFAH1B1 protein, human