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Novel familial IQSEC2 pathogenic sequence variant associated with neurodevelopmental disorders and epilepsy.
Wayhelova, Marketa; Ryzí, Michal; Oppelt, Jan; Hladilkova, Eva; Vallova, Vladimira; Krskova, Lenka; Vilemova, Marcela; Polackova, Hana; Gaillyova, Renata; Kuglik, Petr.
Afiliación
  • Wayhelova M; Department of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic.
  • Ryzí M; Department of Medical Genetics, University Hospital Brno, Brno, Czech Republic.
  • Oppelt J; Clinic of Children's Neurology, University Hospital Brno, Brno, Czech Republic.
  • Hladilkova E; CEITEC-Central European Institute of Technology, Masaryk University, Brno, Czech Republic.
  • Vallova V; Department of Medical Genetics, University Hospital Brno, Brno, Czech Republic.
  • Krskova L; Department of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic.
  • Vilemova M; Department of Medical Genetics, University Hospital Brno, Brno, Czech Republic.
  • Polackova H; Department of Pathology and Molecular Medicine, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.
  • Gaillyova R; Department of Medical Genetics, University Hospital Brno, Brno, Czech Republic.
  • Kuglik P; Department of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic.
Neurogenetics ; 21(4): 269-278, 2020 10.
Article en En | MEDLINE | ID: mdl-32564198
Pathogenic sequence variants in the IQ motif- and Sec7 domain-containing protein 2 (IQSEC2) gene have been confirmed as causative in the aetiopathogenesis of neurodevelopmental disorders (intellectual disability, autism) and epilepsy. We report on a case of a family with three sons; two of them manifest delayed psychomotor development and epilepsy. Initially proband A was examined using a multistep molecular diagnostics algorithm, including karyotype and array-comparative genomic hybridization analysis, both with negative results. Therefore, probands A and B and their unaffected parents were enrolled for an analysis using targeted "next-generation" sequencing (NGS) with a gene panel ClearSeq Inherited DiseaseXT (Agilent Technologies) and verification analysis by Sanger sequencing. A novel frameshift variant in the X-linked IQSEC2 gene NM_001111125.2:c.1813_1814del, p.(Asp605Profs*3) on protein level, was identified in both affected probands and their asymptomatic mother, having skewed X chromosome inactivation (XCI) (100:0). As the IQSEC2 gene is a known gene escaping from XCI in humans, we expect the existence of mechanisms maintaining the normal or enough level of the IQSEC2 protein in the asymptomatic mother. Further analyses may help to the characterization of the presented novel frameshift variant in the IQSEC2 gene as well as to elucidate the mechanisms leading to the rare asymptomatic phenotypes in females.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Variación Genética / Factores de Intercambio de Guanina Nucleótido / Epilepsia / Hibridación Genómica Comparativa / Trastornos del Neurodesarrollo Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Neurogenetics Asunto de la revista: GENETICA / NEUROLOGIA Año: 2020 Tipo del documento: Article País de afiliación: República Checa Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Variación Genética / Factores de Intercambio de Guanina Nucleótido / Epilepsia / Hibridación Genómica Comparativa / Trastornos del Neurodesarrollo Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Neurogenetics Asunto de la revista: GENETICA / NEUROLOGIA Año: 2020 Tipo del documento: Article País de afiliación: República Checa Pais de publicación: Estados Unidos