Mutations in FLNB cause boomerang dysplasia

Details

Serval ID
serval:BIB_E37CBFCD2FC8
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Mutations in FLNB cause boomerang dysplasia
Journal
Journal of Medical Genetics
Author(s)
Bicknell  L. S., Morgan  T., Bonafe  L., Wessels  M. W., Bialer  M. G., Willems  P. J., Cohn  D. H., Krakow  D., Robertson  S. P.
ISSN
1468-6244
Publication state
Published
Issued date
07/2005
Peer-reviewed
Oui
Volume
42
Number
7
Pages
e43
Notes
Case Reports
Letter
Research Support, Non-U.S. Gov't --- Old month value: Jul
Abstract
Boomerang dysplasia (BD) is a perinatal lethal osteochondrodysplasia, characterised by absence or underossification of the limb bones and vertebrae. The BD phenotype is similar to a group of disorders including atelosteogenesis I, atelosteogenesis III, and dominantly inherited Larsen syndrome that we have recently shown to be associated with mutations in FLNB, the gene encoding the actin binding cytoskeletal protein, filamin B. We report the identification of mutations in FLNB in two unrelated individuals with boomerang dysplasia. The resultant substitutions, L171R and S235P, lie within the calponin homology 2 region of the actin binding domain of filamin B and occur at sites that are evolutionarily well conserved. These findings expand the phenotypic spectrum resulting from mutations in FLNB and underline the central role this protein plays during skeletogenesis in humans.
Keywords
Abnormalities, Multiple/genetics Aborted Fetus/radiography Amino Acid Substitution Animals Binding Sites/genetics Conserved Sequence/genetics Contractile Proteins/*genetics DNA Mutational Analysis Female Heterozygote Humans Microfilament Proteins/*genetics *Mutation Osteochondrodysplasias/*genetics Phenotype Pregnancy Pregnancy Trimester, Second Sequence Homology, Amino Acid
Pubmed
Web of science
Open Access
Yes
Create date
21/01/2008 13:50
Last modification date
20/08/2019 17:07
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