Rare ACTG1 variants in fetal microlissencephaly

doi:10.1016/j.ejmg.2015.06.006

Case Reports

. 2015 Aug;58(8):416-8.

doi: 10.1016/j.ejmg.2015.06.006. Epub 2015 Jul 16.

Rare ACTG1 variants in fetal microlissencephaly

Affiliations

¹ Inserm, U1016, Institut Cochin, Paris, France; CNRS, UMR8104, Paris, France; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France.
² Unit of Fetal Pathology, APHP, Antoine Beclere University Hospital, Clamart, France.
³ Pathology Laboratory, Rouen University Hospital, France; NeoVasc Region-Inserm Team ERI28, Laboratory of Microvascular Endothelium and Neonate Brain Lesions, Institute of Research for Innovation in Biomedicine, University of Rouen, Rouen, France.
⁴ Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France; Institut Imagine-INSERM UMR-1163, Embryology and Genetics of Congenital Malformations, Paris, France.
⁵ Université de Montréal, CHU Sainte Justine, Montréal, QC, Canada.
⁶ Pediatric Neurology, Necker Enfants Malades University Hospital, Paris, France.
⁷ Pediatric Neurology, Trousseau University Hospital, Paris, France.
⁸ Pathology Laboratory, Centre hospitalier de Tulle, France.
⁹ Department of Clinical Genetics, Clermont Ferrand University Hospital, France.
¹⁰ Centre National de Génotypage, Evry, France.
¹¹ Inserm, U1016, Institut Cochin, Paris, France; CNRS, UMR8104, Paris, France; Pôle de biologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Genetics and et Pathophysiology of Neurodeveloppemental and Epileptogenic Disorders, IGBMC, Illkirch, France.
¹² Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France; Institut Imagine-INSERM UMR-1163, Embryology and Genetics of Congenital Malformations, Paris, France. Electronic address: nadia.bahi-buisson@nck.aphp.fr.

PMID: 26188271
DOI: 10.1016/j.ejmg.2015.06.006

Case Reports

Rare ACTG1 variants in fetal microlissencephaly

Karine Poirier et al. Eur J Med Genet. 2015 Aug.

. 2015 Aug;58(8):416-8.

doi: 10.1016/j.ejmg.2015.06.006. Epub 2015 Jul 16.

Affiliations

¹ Inserm, U1016, Institut Cochin, Paris, France; CNRS, UMR8104, Paris, France; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France.
² Unit of Fetal Pathology, APHP, Antoine Beclere University Hospital, Clamart, France.
³ Pathology Laboratory, Rouen University Hospital, France; NeoVasc Region-Inserm Team ERI28, Laboratory of Microvascular Endothelium and Neonate Brain Lesions, Institute of Research for Innovation in Biomedicine, University of Rouen, Rouen, France.
⁴ Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France; Institut Imagine-INSERM UMR-1163, Embryology and Genetics of Congenital Malformations, Paris, France.
⁵ Université de Montréal, CHU Sainte Justine, Montréal, QC, Canada.
⁶ Pediatric Neurology, Necker Enfants Malades University Hospital, Paris, France.
⁷ Pediatric Neurology, Trousseau University Hospital, Paris, France.
⁸ Pathology Laboratory, Centre hospitalier de Tulle, France.
⁹ Department of Clinical Genetics, Clermont Ferrand University Hospital, France.
¹⁰ Centre National de Génotypage, Evry, France.
¹¹ Inserm, U1016, Institut Cochin, Paris, France; CNRS, UMR8104, Paris, France; Pôle de biologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Genetics and et Pathophysiology of Neurodeveloppemental and Epileptogenic Disorders, IGBMC, Illkirch, France.
¹² Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France; Institut Imagine-INSERM UMR-1163, Embryology and Genetics of Congenital Malformations, Paris, France. Electronic address: nadia.bahi-buisson@nck.aphp.fr.

PMID: 26188271
DOI: 10.1016/j.ejmg.2015.06.006

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.

Keywords: Baraitser–Winter syndrome; Microlissencephaly.

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Rare ACTG1 variants in fetal microlissencephaly

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Rare ACTG1 variants in fetal microlissencephaly

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