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dc.contributor.authorPowell, Corinna
dc.contributor.authorVasudevan, Pradeep
dc.date.accessioned2022-06-16T15:07:59Z
dc.date.available2022-06-16T15:07:59Z
dc.date.issued2021-05
dc.identifier.citationMuir, A. M., Gardner, J. F., van Jaarsveld, R. H., de Lange, I. M., van der Smagt, J. J., Wilson, G. N., Dubbs, H., Goldberg, E. M., Zitano, L., Bupp, C., Martinez, J., Srour, M., Accogli, A., Alhakeem, A., Meltzer, M., Gropman, A., Brewer, C., Caswell, R. C., Montgomery, T., McKenna, C., … Mefford, H. C. (2021). Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia. Genetics in medicine : official journal of the American College of Medical Genetics, 23(5), 881–887. https://doi.org/10.1038/s41436-020-01076-8en_US
dc.identifier.urihttp://hdl.handle.net/20.500.12904/15611
dc.description.abstractPurpose: Neurodevelopmental disorders (NDDs) encompass a spectrum of genetically heterogeneous disorders with features that commonly include developmental delay, intellectual disability, and autism spectrum disorders. We sought to delineate the molecular and phenotypic spectrum of a novel neurodevelopmental disorder caused by variants in the GNAI1 gene. Methods: Through large cohort trio-based exome sequencing and international data-sharing, we identified 24 unrelated individuals with NDD phenotypes and a variant in GNAI1, which encodes the inhibitory Gαi1 subunit of heterotrimeric G-proteins. We collected detailed genotype and phenotype information for each affected individual. Results: We identified 16 unique variants in GNAI1 in 24 affected individuals; 23 occurred de novo and 1 was inherited from a mosaic parent. Most affected individuals have a severe neurodevelopmental disorder. Core features include global developmental delay, intellectual disability, hypotonia, and epilepsy. Conclusion: This collaboration establishes GNAI1 variants as a cause of NDDs. GNAI1-related NDD is most often characterized by severe to profound delays, hypotonia, epilepsy that ranges from self-limiting to intractable, behavior problems, and variable mild dysmorphic features.
dc.description.urihttps://www.gimjournal.org/article/S1098-3600(21)01447-7/fulltexten_US
dc.language.isoenen_US
dc.subjectdevelopmental disabilitiesen_US
dc.subjectintellectual disabilityen_US
dc.subjectmuscle hypotoniaen_US
dc.subjectneurodevelopmental disordersen_US
dc.subjectwhole exome sequencingen_US
dc.titleVariants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotoniaen_US
dc.typeArticleen_US
rioxxterms.funderDefault funderen_US
rioxxterms.identifier.projectDefault projecten_US
rioxxterms.versionNAen_US
rioxxterms.versionofrecord10.1038/s41436-020-01076-8en_US
rioxxterms.typeJournal Article/Reviewen_US
refterms.panelUnspecifieden_US
html.description.abstractPurpose: Neurodevelopmental disorders (NDDs) encompass a spectrum of genetically heterogeneous disorders with features that commonly include developmental delay, intellectual disability, and autism spectrum disorders. We sought to delineate the molecular and phenotypic spectrum of a novel neurodevelopmental disorder caused by variants in the GNAI1 gene. Methods: Through large cohort trio-based exome sequencing and international data-sharing, we identified 24 unrelated individuals with NDD phenotypes and a variant in GNAI1, which encodes the inhibitory Gαi1 subunit of heterotrimeric G-proteins. We collected detailed genotype and phenotype information for each affected individual. Results: We identified 16 unique variants in GNAI1 in 24 affected individuals; 23 occurred de novo and 1 was inherited from a mosaic parent. Most affected individuals have a severe neurodevelopmental disorder. Core features include global developmental delay, intellectual disability, hypotonia, and epilepsy. Conclusion: This collaboration establishes GNAI1 variants as a cause of NDDs. GNAI1-related NDD is most often characterized by severe to profound delays, hypotonia, epilepsy that ranges from self-limiting to intractable, behavior problems, and variable mild dysmorphic features.en_US
rioxxterms.funder.project94a427429a5bcfef7dd04c33360d80cden_US


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