Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity.

doi:10.1002/humu.22012

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Article

Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity.

Human mutation - 1 Apr 2012

Daniel Philip B, Morgan Tim, Alanay Yasemin, Bijlsma Emilia, Cho Tae-Joon, Cole Trevor, Collins Felicity, David Albert, Devriendt Koen, Faivre Laurence, Ikegawa Shiro, Jacquemont Sebastien, Jesic Milos, Krakow Deborah, Liebrecht Daniela, Maitz Silvia, Marlin Sandrine, Morin Gilles, Nishikubo Toshiya, Nishimura Gen, Prescott Trine, Scarano Gioacchino, Shafeghati Yousef, Skovby Flemming, Tsutsumi Seiji, Whiteford Margo, Zenker Martin, Robertson Stephen P

Abstract excerpt

Dominant missense mutations in FLNB, encoding the actin-cross linking protein filamin B (FLNB), cause a broad range of skeletal dysplasias with varying severity by an unknown mechanism. Here these FLNB mutations are shown to cluster in exons encoding the actin-binding domain (ABD) and filamin repeats surrounding the flexible hinge 1 region of the FLNB rod domain. Despite being positioned in domains that bind...

Topics

Actins
Binding Sites
Contractile Proteins
Cytoplasm
Dwarfism
Facies
Filamins
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Microfilament Proteins

Musculoskeletal Abnormalities

Mutation

Osteochondrodysplasias

Repetitive Sequences, Nucleic Acid

Severity of Illness Index

Source

Open in PubMed

Identifiers

PMID: 22190451
DOI: 10.1002/humu.22012

Genes

FLNB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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