Novel de novo pathogenic variant in the GNAI1 gene as a cause
of severe disorders of intellectual development

J 2022

Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development

WAYHELOVÁ, Markéta, Vladimíra VALLOVÁ, Petr BROŽ, Aneta MIKULÁŠOVÁ, Dominika LOUBALOVÁ et. al.

Základní údaje

Originální název

Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development

Autoři

WAYHELOVÁ, Markéta (203 Česká republika, garant, domácí), Vladimíra VALLOVÁ (703 Slovensko, domácí), Petr BROŽ (203 Česká republika, domácí), Aneta MIKULÁŠOVÁ, Dominika LOUBALOVÁ (203 Česká republika, domácí), Hana FILKOVÁ (203 Česká republika), Jan SMETANA (203 Česká republika, domácí), Klára DRÁBOVÁ (203 Česká republika), Renata GAILLYOVÁ (203 Česká republika) a Petr KUGLÍK (203 Česká republika, domácí)

Vydání

Journal of Human Genetics, Springer Nature, 2022, 1434-5161

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

10603 Genetics and heredity

Stát vydavatele

Velká Británie a Severní Irsko

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 3.500

Kód RIV

RIV/00216224:14310/22:00125072

Organizační jednotka

Přírodovědecká fakulta

DOI

http://dx.doi.org/10.1038/s10038-021-00988-w

UT WoS

000722168400001

Klíčová slova česky

neurovývojová onemocnění; celoexomové sekvenování; patogenní sekvenční varianta; GNAI1

Klíčová slova anglicky

neurodevelopmental disorders; whole-exome sequencing; pathogenic sequence variant; GNAI1

Štítky

rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 10. 8. 2022 11:58, Mgr. Markéta Wayhelová, Ph.D.

Anotace

V originále

Pathogenic sequence variant in the GNAI1 gene were recently introduced as a cause of novel syndrome with a manifestation of variable developmental delay and autistic features. In our study, we report a case of monozygotic twins with severe intellectual disability and motor delay and developmental dysphasia. Both probands and their parents were examined using multi-step molecular diagnostic algorithm including whole-exome sequencing (WES), resulting in the identification of a novel, de novo pathogenic sequence variant in the GNAI1 gene, NM_002069.6:c.815 A>G, p.(Asp272Gly) in probands. Using WES we also verified the microarray findings of a familial 8q24.23q24.3 duplication and heterozygous 5q13.2 deletion, not associated with clinical symptoms in probands. Our results confirmed the role of the GNAI1 gene in the pathogenesis of syndromic neurodevelopmental disorders. They support trio- or quatro-based WES as a suitable molecular diagnostics method for the simultaneous detection of clinically relevant sequence variants and CNVs in individuals with neurodevelopmental disorders and rare diseases.

Návaznosti

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

Citovat

WAYHELOVÁ, Markéta, Vladimíra VALLOVÁ, Petr BROŽ, Aneta MIKULÁŠOVÁ, Dominika LOUBALOVÁ, Hana FILKOVÁ, Jan SMETANA, Klára DRÁBOVÁ, Renata GAILLYOVÁ a Petr KUGLÍK. Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development. Journal of Human Genetics. Springer Nature, 2022, roč. 67, č. 4, s. 209-214. ISSN 1434-5161. Dostupné z: https://dx.doi.org/10.1038/s10038-021-00988-w.

@article{1806530,
   author = {Wayhelová, Markéta and Vallová, Vladimíra and Brož, Petr and Mikulášová, Aneta and Loubalová, Dominika and Filková, Hana and Smetana, Jan and Drábová, Klára and Gaillyová, Renata and Kuglík, Petr},
   article_number = {4},
   doi = {http://dx.doi.org/10.1038/s10038-021-00988-w},
   keywords = {neurodevelopmental disorders; whole-exome sequencing; pathogenic sequence variant; GNAI1},
   language = {eng},
   issn = {1434-5161},
   journal = {Journal of Human Genetics},
   title = {Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development},
   url = {https://www.nature.com/articles/s10038-021-00988-w},
   volume = {67},
   year = {2022}
}

TY  - JOUR
ID  - 1806530
AU  - Wayhelová, Markéta - Vallová, Vladimíra - Brož, Petr - Mikulášová, Aneta - Loubalová, Dominika - Filková, Hana - Smetana, Jan - Drábová, Klára - Gaillyová, Renata - Kuglík, Petr
PY  - 2022
TI  - Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development
JF  - Journal of Human Genetics
VL  - 67
IS  - 4
SP  - 209-214
EP  - 209-214
PB  - Springer Nature
SN  - 14345161
KW  - neurodevelopmental disorders
KW  - whole-exome sequencing
KW  - pathogenic sequence variant
KW  - GNAI1
UR  - https://www.nature.com/articles/s10038-021-00988-w
N2  - Pathogenic sequence variant in the GNAI1 gene were recently introduced as a cause of novel syndrome with a manifestation of variable developmental delay and autistic features. In our study, we report a case of monozygotic twins with severe intellectual disability and motor delay and developmental dysphasia. Both probands and their parents were examined using multi-step molecular diagnostic algorithm including whole-exome sequencing (WES), resulting in the identification of a novel, de novo pathogenic sequence variant in the GNAI1 gene, NM_002069.6:c.815 A>G, p.(Asp272Gly) in probands. Using WES we also verified the microarray findings of a familial 8q24.23q24.3 duplication and heterozygous 5q13.2 deletion, not associated with clinical symptoms in probands. Our results confirmed the role of the GNAI1 gene in the pathogenesis of syndromic neurodevelopmental disorders. They support trio- or quatro-based WES as a suitable molecular diagnostics method for the simultaneous detection of clinically relevant sequence variants and CNVs in individuals with neurodevelopmental disorders and rare diseases.
ER  -

WAYHELOVÁ, Markéta, Vladimíra VALLOVÁ, Petr BROŽ, Aneta MIKULÁŠOVÁ, Dominika LOUBALOVÁ, Hana FILKOVÁ, Jan SMETANA, Klára DRÁBOVÁ, Renata GAILLYOVÁ a Petr KUGLÍK. Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development. \textit{Journal of Human Genetics}. Springer Nature, 2022, roč.~67, č.~4, s.~209-214. ISSN~1434-5161. Dostupné z: https://dx.doi.org/10.1038/s10038-021-00988-w.

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