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 "next-generation" 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
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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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
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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