Toggle Main Menu Toggle Search

Open Access padlockePrints

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

Lookup NU author(s): Dr Aneta Mikulasova


Full text for this publication is not currently held within this repository. Alternative links are provided below where available.


© 2021, The Author(s), under exclusive licence to The Japan Society of Human Genetics.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.

Publication metadata

Author(s): Wayhelova M, Vallova V, Broz P, Mikulasova A, Loubalova D, Filkova H, Smetana J, Drabova K, Gaillyova R, Kuglik P

Publication type: Article

Publication status: Published

Journal: Journal of Human Genetics

Year: 2022

Volume: 67

Pages: 209-214

Print publication date: 01/04/2022

Online publication date: 25/11/2021

Acceptance date: 15/10/2021

ISSN (print): 1434-5161

ISSN (electronic): 1435-232X

Publisher: Springer Nature


DOI: 10.1038/s10038-021-00988-w


Altmetrics provided by Altmetric