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Titolo:
Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis
Autore:
Kato, M; Kanai, M; Soma, O; Takusa, Y; Kimura, T; Numakura, C; Matsuki, T; Nakamura, S; Hayasaka, L;
Indirizzi:
Yamagata Univ, Sch Med, Dept Pediat, Yamagata 9909585, Japan Yamagata Univ Yamagata Japan 9909585 ept Pediat, Yamagata 9909585, Japan Kobe Childrens Hosp, Dept Dev & Neurol, Kobe, Hyogo, Japan Kobe Childrens Hosp Kobe Hyogo Japan pt Dev & Neurol, Kobe, Hyogo, Japan Shimane Med Univ, Dept Pediat, Izumo, Shimane 693, Japan Shimane Med UnivIzumo Shimane Japan 693 ediat, Izumo, Shimane 693, Japan Fukui Med Univ, Dept Forens Med, Fukui, Japan Fukui Med Univ Fukui Japan ukui Med Univ, Dept Forens Med, Fukui, Japan Kitasato Univ, Sch Med, Dept Legal Med, Sagamihara, Kanagawa 228, Japan Kitasato Univ Sagamihara Kanagawa Japan 228 gamihara, Kanagawa 228, Japan
Titolo Testata:
ANNALS OF NEUROLOGY
fascicolo: 4, volume: 50, anno: 2001,
pagine: 547 - 551
SICI:
0364-5134(200110)50:4<547:MOTDGI>2.0.ZU;2-O
Fonte:
ISI
Lingua:
ENG
Soggetto:
SUBCORTICAL BAND HETEROTOPIA;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
17
Recensione:
Indirizzi per estratti:
Indirizzo: Kato, M Yamagata Univ, Sch Med, Dept Pediat, Iidanishi 2-2-2, Yamagata 9909585, Japan Yamagata Univ Iidanishi 2-2-2 Yamagata Japan 9909585 09585, Japan
Citazione:
M. Kato et al., "Mutation of the doublecortin gene in male patients with double cortex syndrome: Somatic mosaicism detected by hair root analysis", ANN NEUROL, 50(4), 2001, pp. 547-551

Abstract

The molecular basis of double cortex syndrome was investigated in 2 male patients. Magnetic resonance imaging of the patients' heads showed diffuse subcortical band heterotopia, as is seen in female patients. We found a heterozygous mutation for Asp50Lys or Arg39Stop in both patients. Microsatellite polymorphism analysis revealed that both patients had inherited a single X chromosome from their mothers. Restriction enzyme analysis using DNA extracted from the hair roots of each patient showed four different patterns inthe combination of cells carrying wild and mutant alleles, which strongly suggest somatic mosaicism. We conclude that somatic mosaic mutations in thedoublecortin gene in male patients can cause subcortical band heterotopia,and that molecular analysis using hair roots is a useful method for detecting somatic mosaicism.

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Documento generato il 30/10/20 alle ore 00:11:22