title: Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis.
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.
authors.affiliation: Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Maroc.
authors.forename: Lekbir
authors.initials: L
authors.lastname: Baala
authors.forename: Sylvain
authors.initials: S
authors.lastname: Briault
authors.forename: Heather C
authors.initials: HC
authors.lastname: Etchevers
authors.forename: Frédéric
authors.initials: F
authors.lastname: Laumonnier
authors.forename: Abdelhafid
authors.initials: A
authors.lastname: Natiq
authors.forename: Jeanne
authors.initials: J
authors.lastname: Amiel
authors.forename: Nathalie
authors.initials: N
authors.lastname: Boddaert
authors.forename: Capucine
authors.initials: C
authors.lastname: Picard
authors.forename: Aziza
authors.initials: A
authors.lastname: Sbiti
authors.forename: Abdellah
authors.initials: A
authors.lastname: Asermouh
authors.forename: Tania
authors.initials: T
authors.lastname: Attié-Bitach
authors.forename: Féréchté
authors.initials: F
authors.lastname: Encha-Razavi
authors.forename: Arnold
authors.initials: A
authors.lastname: Munnich
authors.forename: Abdelaziz
authors.initials: A
authors.lastname: Sefiani
authors.forename: Stanislas
authors.initials: S
authors.lastname: Lyonnet
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D061085:Agenesis of Corpus Callosum; D002879:Chromosomes, Human, Pair 10; D002893:Chromosomes, Human, Pair 3; D004252:DNA Mutational Analysis; D020868:Gene Silencing; D006720:Homozygote; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D010375:Pedigree; D020825:T-Box Domain Proteins / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: C491199:EOMES protein, human; D020825:T-Box Domain Proteins