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  • Title: Rare ACTG1 variants in fetal microlissencephaly.
    Author: Poirier K, Martinovic J, Laquerrière A, Cavallin M, Fallet-Bianco C, Desguerre I, Valence S, Grande-Goburghun J, Francannet C, Deleuze JF, Boland A, Chelly J, Bahi-Buisson N.
    Journal: Eur J Med Genet; 2015 Aug; 58(8):416-8. PubMed ID: 26188271.
    Abstract:
    Heterozygous ACTG1 mutations are responsible for Baraitser-Winter cerebrofrontofacial syndrome which cortical malformation is characterized by pachygyria with frontal to occipital gradient of severity. We identified by whole exome sequencing in a cohort of 12 patients with prenatally diagnosed microlissencephaly, 2 foetal cases with missense mutations in the ACTG1 gene and in one case of living patient with typical Baraitser-Winter syndrome. Both foetuses and child exhibited microcephaly and facial dysmorphism consisting of microretrognatism, hypertelorism and low-set ears. Brain malformations included lissencephaly with an immature cortical plate, dysmorphic (2/3) or absent corpus callosum and vermian hypoplasia (2/3). Our results highlight the powerful diagnostic value of exome sequencing for patients with microlissencephaly, that may expand the malformation spectrum of ACTG1-related Baraitser-Winter cerebrofrontofacial syndrome and may suggest that ACTG1 could be added to the list of genes for assessing microlissencephaly.
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