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

Détails

ID Serval
serval:BIB_DD37ED91C6CC
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Mutations in two regions of FLNB result in atelosteogenesis I and III.
Périodique
Human Mutation
Auteur(s)
Farrington-Rock C., Firestein M.H., Bicknell L.S., Superti-Furga A., Bacino C.A., Cormier-Daire V., Le Merrer M., Baumann C., Roume J., Rump P., Verheij J.B., Sweeney E., Rimoin D.L., Lachman R.S., Robertson S.P., Cohn D.H., Krakow D.
ISSN
1098-1004 (Electronic)
ISSN-L
1059-7794
Statut éditorial
Publié
Date de publication
2006
Volume
27
Numéro
7
Pages
705-710
Langue
anglais
Résumé
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.
Mots-clé
Amino Acid Sequence, Contractile Proteins/chemistry, Contractile Proteins/genetics, DNA Mutational Analysis, Exons, Female, Fetal Diseases/genetics, Fetal Diseases/radiography, Humans, Infant, Infant, Newborn, Male, Microfilament Proteins/chemistry, Microfilament Proteins/genetics, Molecular Sequence Data, Mutation, Missense, Osteochondrodysplasias/genetics, Osteochondrodysplasias/radiography, Pregnancy, Prenatal Diagnosis, Protein Structure, Tertiary, Sequence Alignment
Pubmed
Web of science
Création de la notice
14/03/2011 16:08
Dernière modification de la notice
20/08/2019 16:02
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