Heterozygous mutations in the GNB2 gene are responsible for neurodevelopmental disorder with hypotonia and dysmorphic facies (NEDHYDF; OMIM 619503) (Fukuda et al., 2020; Lansdon et al., 2021; Tan et al., 2021). Tan et al., 2021 identified 12 unrelated individuals with five de novo missense variants in the GNB2 gene; all individuals presented with developmental delay/intellectual disability with variable dysmorphism and extraneurologic features, and autistic behaviors were observed in six of these individuals, two of whom were diagnosed with autism spectrum disorder. A de novo missense variant in this gene was observed in an ASD proband from the Autism Sequencing Consortium (De Rubeis et al., 2014).
Molecular Function
Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability
