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

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F65269705%3A_____%2F22%3A00076003" target="_blank" >RIV/65269705:_____/22:00076003 - isvavai.cz</a>
Alternative codes found
RIV/00064203:_____/22:10434450 RIV/00216208:11130/22:10434450 RIV/00216224:14310/22:00125072
Result on the web
<a href="https://www.nature.com/articles/s10038-021-00988-w" target="_blank" >https://www.nature.com/articles/s10038-021-00988-w</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1038/s10038-021-00988-w" target="_blank" >10.1038/s10038-021-00988-w</a>

Result language
angličtina
Original language name
Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development
Original language description
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.
Czech name
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Czech description
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Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
—
OECD FORD branch
10603 - Genetics and heredity (medical genetics to be 3)

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
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year
2022
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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