Filamins are large actin-binding proteins that stabilize delicate three-dimensional actin webs and link them to cellular membranes. They integrate cellular architectural and signalling functions and are essential for fetal development and cell locomotion.

Members

Pathology

 FLNA germline mutations in

• periventricular heterotopia (MIM.300049) with or without frontometaphyseal dysplasia (MIM.304120)
• otopalatodigital syndrome type I (OPD1) (MIM.311300)
• frontometaphyseal dysplasia (FMD) (MIM.304120)
• Melnick-Needles syndrome (MNS) (MIM.309350)

 FLNB germline mutations in

• spondylocarpotarsal syndrome (SCT) (MIM.272460)
• autosomal dominant Larsen syndrome (MIM.150250)
• atelosteogenesis type I (AOI) (MIM.108720)

References

 Robertson SP. Molecular pathology of filamin A: diverse phenotypes, many functions. Clin Dysmorphol. 2004 Jul;13(3):123-31. PMID: #15194946#

 Stossel TP, Condeelis J, Cooley L, Hartwig JH, Noegel A, Schleicher M, Shapiro SS. Filamins as integrators of cell mechanics and signalling. Nat Rev Mol Cell Biol. 2001 Feb;2(2):138-45. PMID: #11252955#