Second patient with GNB2-related neurodevelopmental disease: Further evidence for a gene-disease association.
Document Type
Article
Publication Date
7-2021
Identifier
DOI: 10.1016/j.ejmg.2021.104243
Abstract
G-proteins are ubiquitously expressed heterotrimeric proteins consisting of α, β and γ subunits and mediate G-protein coupled receptor signalling cascades. The β subunit is encoded by one of five highly similar paralogs (GNB1-GNB5, accordingly). The developmental importance of G-proteins is highlighted by the clinical relevance of variants in genes such as GNB1, which cause severe neurodevelopmental disease (NDD). Recently the candidacy of GNB2 was raised in association with NDD in an individual with a de novo variant affecting a codon conserved across paralogs and recurrently mutated in GNB1-related disease, c.229G>A p.(Gly77Arg), in association with global developmental delay, intellectual disability and dysmorphic features. Here, we report a patient with strikingly similar facial features and NDD in association with a de novo GNB2 variant affecting the same codon, c.229G>T p.(Gly77Trp). In addition, this individual has epilepsy and overgrowth. Our report is the second to implicate a de novo GNB2 variant with a severe yet variable NDD.
Journal Title
Eur J Med Genet
Volume
64
Issue
7
First Page
104243
Last Page
104243
Keywords
Exome; G-proteins; GNB2; Neurodevelopmental disease; Variant
Recommended Citation
Lansdon LA, Fleming EA, Viso FD, Sullivan BR, Saunders CJ. Second patient with GNB2-related neurodevelopmental disease: Further evidence for a gene-disease association. Eur J Med Genet. 2021;64(7):104243. doi:10.1016/j.ejmg.2021.104243
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