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The X-linked filaminopathies: synergistic insights from clinical and molecular analysis.
Human Mutation ( IF 4.124 ) Pub Date : 2020-03-11 , DOI: 10.1002/humu.24002
Emma M Wade,Benjamin J Halliday,Zandra A Jenkins,Adam C O'Neill,Stephen P Robertson

The X-linked filaminopathies represent a diverse group of clinical conditions, all caused by variants in the gene FLNA. FLNA encodes the widely expressed actin binding protein, filamin A that has multiple roles during embryonic development including cell migration, mechanical sensing, and cell signalling. In this review we discuss the ten distinct X-linked filaminopathy conditions that between them, affect almost all organ systems, including the brain, skeleton, heart, and skin, highlighting the critical role of this protein in human development. We review each of the phenotypes and discuss their pathogenesis, where known. Assigning pathogenicity to variants in FLNA can prove difficult, especially for missense variants and small indels, in-part because of the X-linked nature of the phenotypes, the overlap of phenotypic features between conditions, and poor understanding of the function of certain protein domains. We outline here approaches to characterise phenotypes, highlight hotspot regions within FLNA commonly mutated in these conditions, and approaches to resolving some variants of uncertain significance. This article is protected by copyright. All rights reserved.
更新日期:2020-03-11

 

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