2. Academic Validation
  3. Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction

Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction

  • Eur J Med Genet. 2018 Dec;61(12):755-758. doi: 10.1016/j.ejmg.2018.08.001.
Mara Cavallin 1,  Amandine Bery 2,  Camille Maillard 3,  Laurent J Salomon 4,  Christine Bole 5,  Madeline Louise Reilly 6,  Patrick Nitschké 7,  Nathalie Boddaert 8,  Nadia Bahi-Buisson 9
Affiliations

Affiliations

  • 1 Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR1163, Imagine Institute, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France; Pediatric Neurology APHP- Necker Enfants Malades University Hospital, Paris, France.
  • 2 Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR1163, Imagine Institute, Paris, France.
  • 3 Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR1163, Imagine Institute, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.
  • 4 Department of Obstetrics and Fetal Medicine APHP- Necker Enfants Malades University Hospital, Paris, France.
  • 5 Genomic Core Facility, INSERM UMR1163, Imagine Institute, Paris, France.
  • 6 Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France; Laboratory of Inherited Kidney Diseases, INSERM UMR1163, Imagine Institute, Paris, France; Paris Diderot University, 75013, Paris, France.
  • 7 Bioinformatic Core Facility, INSERM UMR1163, Imagine Institute, Paris, France.
  • 8 Pediatric Radiology, APHP-Necker Enfants Malades University Hospital, Paris, France; Image- Institut Imagine, INSERM UMR1163, Université Paris Descartes, Hôpital Necker Enfants Malades, Paris, France.
  • 9 Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR1163, Imagine Institute, Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France; Pediatric Neurology APHP- Necker Enfants Malades University Hospital, Paris, France; Centre de Référence, Déficiences Intellectuelles de Causes Rares, APHP- Necker Enfants Malades University Hospital, Paris, France. Electronic address: nadia.bahi-buisson@nck.aphp.fr.
PMID: 30121372 DOI: 10.1016/j.ejmg.2018.08.001
Abstract

Autosomal recessive missense Rotatin (RTTN) mutations are responsible for syndromic forms of malformation of cortical development, ranging from isolated polymicrogyria to microcephaly associated with primordial dwarfism and other major malformations. We identified, by trio based whole exome Sequencing, a homozygous missense mutation in the RTTN gene (c.2953A > G; p.(Arg985Gly)) in one Moroccan patient from a consanguineous family. The patient showed early onset primary microcephaly, detected in the fetal period, postnatal growth restriction, encephalopathy with hyperkinetic movement disorders and self-injurious behavior with sleep disturbance. Brain MRI showed an extensive dysgyria associated with nodular heterotopia, large interhemispheric arachnoid cyst and corpus callosum hypoplasia.

Keywords

Hyperkinetic movement disorders; Microlissencephaly; Primary microcephaly; Primordial dwarfism; RTTN.

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