All

What are you looking for?

All
Projects
Results
Organizations

Quick search

  • Projects supported by TA ČR
  • Excellent projects
  • Projects with the highest public support
  • Current projects

Smart search

  • That is how I find a specific +word
  • That is how I leave the -word out of the results
  • “That is how I can find the whole phrase”

Novel Familial IQSEC2 Pathogenic Sequence Variant Associated With Neurodevelopmental Disorders and Epilepsy

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F20%3A10412221" target="_blank" >RIV/00216208:11130/20:10412221 - isvavai.cz</a>

  • Alternative codes found

    RIV/00216224:14310/20:00115870 RIV/65269705:_____/20:00073211 RIV/00064203:_____/20:10412221

  • Result on the web

    <a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=kK9Qj_gaOK" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=kK9Qj_gaOK</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.1007/s10048-020-00616-3" target="_blank" >10.1007/s10048-020-00616-3</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    Novel Familial IQSEC2 Pathogenic Sequence Variant Associated With Neurodevelopmental Disorders and Epilepsy

  • Original language description

    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 &quot;next-generation&quot; sequencing (NGS) with a gene panel ClearSeq Inherited Disease(XT)(Agilent Technologies) and verification analysis by Sanger sequencing. A novel frameshift variant in the X-linkedIQSEC2gene 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 theIQSEC2gene 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 theIQSEC2gene as well as to elucidate the mechanisms leading to the rare asymptomatic phenotypes in females.

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database

  • CEP classification

  • OECD FORD branch

    30109 - Pathology

Result continuities

  • Project

    <a href="/en/project/NU20-07-00145" target="_blank" >NU20-07-00145: The role of pathogenic genetic variants identified by exome sequencing in the etiology of pediatric neurodevelopmental disorders</a><br>

  • Continuities

    I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Others

  • Publication year

    2020

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Name of the periodical

    Neurogenetics

  • ISSN

    1364-6745

  • e-ISSN

  • Volume of the periodical

    21

  • Issue of the periodical within the volume

    4

  • Country of publishing house

    DE - GERMANY

  • Number of pages

    10

  • Pages from-to

    269-278

  • UT code for WoS article

    000541406100001

  • EID of the result in the Scopus database

    2-s2.0-85086770865