FLNA Gene

The FLNA gene (FLNA stands for "Filamin A") is a protein-coding gene located on chromosome Xq28. Two transcript variants encoding different isoforms have been found for this gene.

The protein encoded by FLNA, filamin A, is an actin-binding protein that cross-links actin filaments and links actin filaments to membrane glycoproteins. Filamin A is involved in cytoskeletal remodeling to induce changes in cell shape and migration. The protein interacts with integrins, transmembrane receptor complexes, and second messengers. Mutations in this gene are associated with several syndromes, including:

1. periventricular nodular heterotopias (PVNH1, PVNH4).
2. otopalatodigital syndromes (OPD1, OPD2)
3. frontometaphyseal dysplasia (FMD)
4. Melnick-Needles syndrome (MNS)
5. X-linked valvular dysplasia with keloids and arthropathies (Atwal PS et al.2016).
6. X-linked congenital idiopathic intestinal pseudoobstruction (CIIPX).

1. Atwal PS et al.(2016) Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R. Am J Med Genet A 170A:891-895.
2. Bandaru S et al (2019) Targeting filamin A Reduces Macrophage Activity and Atherosclerosis. Circulation 140:67-79.
3. Kalayinia S et al (2021) Whole-Exome Sequencing Reveals a Novel Mutation of FLNA Gene in an Iranian Family with Nonsyndromic Tetralogy of Fallot. Lab Med 52:614-618.
4. Lah M et al (2016) A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation. Am J Med Genet A 170A:881-90.