Article
New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.
Journal of medical genetics - 1 Nov 2011
Mercier Sandra, Dubourg Christèle, Garcelon Nicolas, Campillo-Gimenez Boris, Gicquel Isabelle, Belleguic Marion, Ratié Leslie, Pasquier Laurent, Loget Philippe, Bendavid Claude, Jaillard Sylvie, Rochard Lucie, Quélin Chloé, Dupé Valérie, David Véronique, Odent Sylvie
Abstract excerpt
BACKGROUND: Holoprosencephaly (HPE) is the most common forebrain defect in humans. It results from incomplete midline cleavage of the prosencephalon. METHODS: A large European series of 645 HPE probands (and 699 relatives), consisting of 51% fetuses and 49% liveborn children, is reported. RESULTS: Mutations in the four main genes involved in HPE (SHH, ZIC2, SIX3, TGIF) were identified in 25% of cases. The SHH,...
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