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

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Publikace nespadá pod Ekonomicko-správní fakultu, ale pod Přírodovědeckou fakultu. Oficiální stránka publikace je na webu muni.cz.
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WAYHELOVÁ Markéta VALLOVÁ Vladimíra BROŽ Petr MIKULÁŠOVÁ Aneta LOUBALOVÁ Dominika FILKOVÁ Hana SMETANA Jan DRÁBOVÁ Klára GAILLYOVÁ Renata KUGLÍK Petr

Rok publikování 2022
Druh Článek v odborném periodiku
Časopis / Zdroj Journal of Human Genetics
Fakulta / Pracoviště MU

Přírodovědecká fakulta

Citace
www https://www.nature.com/articles/s10038-021-00988-w
Doi http://dx.doi.org/10.1038/s10038-021-00988-w
Klíčová slova neurodevelopmental disorders; whole-exome sequencing; pathogenic sequence variant; GNAI1
Popis 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.
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