Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis

  • Nat Genet. 2007 Apr;39(4):454-6. doi: 10.1038/ng1993.
Lekbir Baala  1 ,  Sylvain Briault ,  Heather C Etchevers ,  Frédéric Laumonnier ,  Abdelhafid Natiq ,  Jeanne Amiel ,  Nathalie Boddaert ,  Capucine Picard ,  Aziza Sbiti ,  Abdellah Asermouh ,  Tania Attié-Bitach ,  Féréchté Encha-Razavi ,  Arnold Munnich ,  Abdelaziz Sefiani ,  Stanislas Lyonnet
Affiliations
  • 1. Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Maroc.
PMID: 17353897 DOI: 10.1038/ng1993
Abstract

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.