Mutations in FLNB cause boomerang dysplasia
Détails
ID Serval
serval:BIB_E37CBFCD2FC8
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Mutations in FLNB cause boomerang dysplasia
Périodique
Journal of Medical Genetics
ISSN
1468-6244
Statut éditorial
Publié
Date de publication
07/2005
Peer-reviewed
Oui
Volume
42
Numéro
7
Pages
e43
Notes
Case Reports
Letter
Research Support, Non-U.S. Gov't --- Old month value: Jul
Letter
Research Support, Non-U.S. Gov't --- Old month value: Jul
Résumé
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.
Mots-clé
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
Oui
Création de la notice
21/01/2008 12:50
Dernière modification de la notice
20/08/2019 16:07