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Mutations in two regions of FLNB result in atelosteogenesis I and III.

Authors: Farrington-Rock, Claire  Firestein, Marc H  Bicknell, Louise S  Superti-Furga, Andrea  Bacino, Carlos A  Cormier-Daire, Valerie  Le Merrer, Martine  Baumann, Clarisse  Roume, Joelle  Rump, Patrick  Verheij, Joke B G M  Sweeney, Elizabeth  Rimoin, David L  Lachman, Ralph S  Robertson, Stephen P  Cohn, Daniel H  Krakow, Deborah 
Citation: Farrington-Rock C, etal., Hum Mutat. 2006 Jul;27(7):705-10.
Pubmed: (View Article at PubMed) PMID:16752402
DOI: Full-text: DOI:10.1002/humu.20348

The filamins are a family of cytoplasmic proteins that bind to and organize actin filaments, link membrane proteins to the cytoskeleton, and provide a scaffold for signaling molecules. Mutations in the gene encoding filamin B (FLNB) cause a spectrum of osteochondrodysplasias, including atelosteogenesis type I (AOI) and atelosteogenesis type III (AOIII). AOI and AOIII are autosomal dominant lethal skeletal dysplasias characterized by overlapping clinical findings that include vertebral abnormalities, disharmonious skeletal maturation, hypoplastic long bones, and joint dislocations. Previous studies have shown that heterozygosity for missense mutations that alter the CH2 domain and repeat 6 region of filamin B produce AOI and AOIII. In this study, 14 novel missense mutations in FLNB were found in 15 unrelated patients with AOI and AOIII. The majority of the mutations resided in exon 2 and exon 3, which encode the CH2 domain of the actin-binding region of filamin B. The remaining mutations were found in exon 28 and exon 29, which encode repeats 14 and 15 of filamin B. These results show that clustering of mutations in two regions of FLNB produce AOI/AOIII, and highlight the important role of this cytoskeletal protein in normal skeletogenesis.

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RGD Object Information
RGD ID: 12791027
Created: 2017-02-28
Species: All species
Last Modified: 2017-02-28
Status: ACTIVE



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