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

J 2020

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

WAYHELOVÁ, Markéta, Michal RYZÍ, Jan OPPELT, Eva HLADÍLKOVÁ, Vladimíra VALLOVÁ et. al.

Základní údaje

Originální název

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

Autoři

WAYHELOVÁ, Markéta (203 Česká republika, domácí), Michal RYZÍ (203 Česká republika), Jan OPPELT (203 Česká republika, domácí), Eva HLADÍLKOVÁ (203 Česká republika), Vladimíra VALLOVÁ (703 Slovensko, domácí), Lenka KRSKOVÁ (203 Česká republika), Marcela VILÉMOVÁ (203 Česká republika), Hana POLÁČKOVÁ (203 Česká republika, domácí), Renata GAILLYOVÁ (203 Česká republika) a Petr KUGLÍK (203 Česká republika, garant, domácí)

Vydání

Neurogenetics, New York, Springer, 2020, 1364-6745

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

10603 Genetics and heredity

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 2.660

Kód RIV

RIV/00216224:14310/20:00115870

Organizační jednotka

Přírodovědecká fakulta

DOI

http://dx.doi.org/10.1007/s10048-020-00616-3

UT WoS

000541406100001

Klíčová slova anglicky

neurodevelopmental disorders; epilepsy; targeted NGS; pathogenic sequence variant; IQSEC2 gene

Štítky

CF BIOIT, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 24. 10. 2024 17:19, Ing. Marie Švancarová

Anotace

V originále

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.

Návaznosti

MUNI/A/1127/2019, interní kód MU

Název: Podpora výzkumné činnosti studentů molekulární biologie a genetiky 8 (Akronym: MBG 8)

Investor: Masarykova univerzita, Podpora výzkumné činnosti studentů molekulární biologie a genetiky 8, DO R. 2020_Kategorie A - Specifický výzkum - Studentské výzkumné projekty

NU20-07-00145, projekt VaV

Název: Úloha patogenních genetických variant detekovaných pomocí exomového sekvenování v etiologii dětských neurovývojových onemocnění

Investor: Ministerstvo zdravotnictví ČR, Úloha patogenních genetických variant detekovaných pomocí exomového sekvenování v etiologii dětských neurovývojových onemocnění, Podprogram 1 - standardní

90132, velká výzkumná infrastruktura

Název: NCMG II

Citovat

WAYHELOVÁ, Markéta, Michal RYZÍ, Jan OPPELT, Eva HLADÍLKOVÁ, Vladimíra VALLOVÁ, Lenka KRSKOVÁ, Marcela VILÉMOVÁ, Hana POLÁČKOVÁ, Renata GAILLYOVÁ a Petr KUGLÍK. Novel Familial IQSEC2 Pathogenic Sequence Variant Associated With Neurodevelopmental Disorders and Epilepsy. Neurogenetics. New York: Springer, 2020, roč. 21, č. 4, s. 269-278. ISSN 1364-6745. Dostupné z: https://dx.doi.org/10.1007/s10048-020-00616-3.

@article{1668055,
   author = {Wayhelová, Markéta and Ryzí, Michal and Oppelt, Jan and Hladílková, Eva and Vallová, Vladimíra and Krsková, Lenka and Vilémová, Marcela and Poláčková, Hana and Gaillyová, Renata and Kuglík, Petr},
   article_location = {New York},
   article_number = {4},
   doi = {http://dx.doi.org/10.1007/s10048-020-00616-3},
   keywords = {neurodevelopmental disorders; epilepsy; targeted NGS; pathogenic sequence variant; IQSEC2 gene},
   language = {eng},
   issn = {1364-6745},
   journal = {Neurogenetics},
   title = {Novel Familial IQSEC2 Pathogenic Sequence Variant Associated With Neurodevelopmental Disorders and Epilepsy},
   url = {https://link.springer.com/article/10.1007/s10048-020-00616-3},
   volume = {21},
   year = {2020}
}

TY  - JOUR
ID  - 1668055
AU  - Wayhelová, Markéta - Ryzí, Michal - Oppelt, Jan - Hladílková, Eva - Vallová, Vladimíra - Krsková, Lenka - Vilémová, Marcela - Poláčková, Hana - Gaillyová, Renata - Kuglík, Petr
PY  - 2020
TI  - Novel Familial IQSEC2 Pathogenic Sequence Variant Associated With Neurodevelopmental Disorders and Epilepsy
JF  - Neurogenetics
VL  - 21
IS  - 4
SP  - 269-278
EP  - 269-278
PB  - Springer
SN  - 13646745
KW  - neurodevelopmental disorders
KW  - epilepsy
KW  - targeted NGS
KW  - pathogenic sequence variant
KW  - IQSEC2 gene
UR  - https://link.springer.com/article/10.1007/s10048-020-00616-3
L2  - https://link.springer.com/article/10.1007/s10048-020-00616-3
N2  - 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.
ER  -

WAYHELOVÁ, Markéta, Michal RYZÍ, Jan OPPELT, Eva HLADÍLKOVÁ, Vladimíra VALLOVÁ, Lenka KRSKOVÁ, Marcela VILÉMOVÁ, Hana POLÁČKOVÁ, Renata GAILLYOVÁ a Petr KUGLÍK. Novel Familial IQSEC2 Pathogenic Sequence Variant Associated With Neurodevelopmental Disorders and Epilepsy. \textit{Neurogenetics}. New York: Springer, 2020, roč.~21, č.~4, s.~269-278. ISSN~1364-6745. Dostupné z: https://dx.doi.org/10.1007/s10048-020-00616-3.

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