Aliases: ABP-280, ABPX, CSBS, CVD1, FGS2, FLN, FLN-A, FLN1, FMD, MNS, NHBP, OPD, OPD1, OPD2, XLVD, XMVD
Chromosome No: X
Chromosome Band: Xq28
Genetic Category: Multigenic CNV/Functional-Functional-Rare single gene variant-Syndromic
ASD Reports: 11
Recent Reports: 0
Annotated variants: 10
Associated CNVs: 11
Evidence score: 2
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Relevance to Autism
Several de novo variants in the FLNA gene, including a de novo segmental duplication and two de novo missense variants, have been identified in ASD probands (Sakai et al., 2011; Takata et al., 2018; Satterstrom et al., 2020; Miyake et al., 2023), while a rare inherited missense variant in this gene was identified in a Chinese ASD proband from the ACGC cohort (Li et al, 2017). FLNA has been experimentally shown to interact with SHANK3 and NLGN3 (Sakai et al., 2011; Shen et al., 2015). Sequencing of 519 NDD-related genes in 3195 Chinese probands with neurodevelopmental phenotypes identified two individuals with hemizygous missense variants in the FLNA gene that were predicted to be deleterious (Wang et al., 2021).
Molecular Function
The protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins. The encoded protein is involved in remodeling the cytoskeleton to effect changes in cell shape and migration. This protein interacts with integrins, transmembrane receptor complexes, and second messengers. Defects in this gene are a cause of several syndromes, including periventricular nodular heterotopias (PVNH1, PVNH4), otopalatodigital syndromes (OPD1, OPD2), frontometaphyseal dysplasia (FMD), Melnick-Needles syndrome (MNS), and X-linked congenital idiopathic intestinal pseudoobstruction (CIIPX).
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