Brief Communication abstract
Nature Genetics 39, 454 - 456 (2007)
Published online: 11 March 2007 | doi:10.1038/ng1993
Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis
Lekbir Baala1,2, Sylvain Briault3,8, Heather C Etchevers2, Frédéric Laumonnier3, Abdelhafid Natiq1, Jeanne Amiel2, Nathalie Boddaert4, Capucine Picard5, Aziza Sbiti1, Abdellah Asermouh6, Tania Attié-Bitach2,7, Féréchté Encha-Razavi2,7, Arnold Munnich2,7, Abdelaziz Sefiani1 & Stanislas Lyonnet2,7
Neural progenitor proliferation and migration influence brain size during neurogenesis. We report an autosomal recessive microcephaly syndrome cosegregating with a homozygous balanced translocation between chromosomes 3p and 10q, and we show that a position effect at the breakpoint on chromosome 3 silences the eomesodermin transcript (EOMES), also known as T-box-brain2 (TBR2). Together with the expression pattern of EOMES in the developing human brain, our data suggest that EOMES is involved in neuronal division and/or migration. Thus, mutations in genes encoding not only mitotic and apoptotic proteins but also transcription factors may be responsible for malformative microcephaly syndromes.
- Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Maroc.
- INSERM U781, Hôpital Necker, Département de Génétique, Paris, France.
- INSERM U619, Faculté de Médecine, Tours, France.
- Hôpital Necker, Service de Radiologie Pédiatrique, Paris, France.
- Centre d'étude des déficits immunitaires, Paris, France.
- Hôpital d'Enfants CHU Avicenne, Rabat, Maroc.
- Université Réné Descartes - Paris 5, Paris, France.
- Present address: Laboratoire de génétique, CHR La Source, Orléans, France.
Correspondence to: Stanislas Lyonnet2,7 e-mail: lyonnet@necker.fr
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