BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.

Détails

ID Serval
serval:BIB_D3A1222A286B
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.
Périodique
American journal of human genetics
Auteur(s)
Cho S.Y., Bae J.S., Kim N.K., Forzano F., Girisha K.M., Baldo C., Faravelli F., Cho T.J., Kim D., Lee K.Y., Ikegawa S., Shim J.S., Ko A.R., Miyake N., Nishimura G., Superti-Furga A., Spranger J., Kim O.H., Park W.Y., Jin D.K.
ISSN
1537-6605 (Electronic)
ISSN-L
0002-9297
Statut éditorial
Publié
Date de publication
02/06/2016
Peer-reviewed
Oui
Volume
98
Numéro
6
Pages
1243-1248
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: ppublish
Résumé
Spondyloepimetaphyseal dysplasias (SEMDs) comprise a heterogeneous group of autosomal-dominant and autosomal-recessive disorders. An apparent X-linked recessive (XLR) form of SEMD in a single Italian family was previously reported. We have been able to restudy this family together with a second family from Korea by segregating a severe SEMD in an X-linked pattern. Exome sequencing showed missense mutations in BGN c.439A>G (p.Lys147Glu) in the Korean family and c.776G>T (p.Gly259Val) in the Italian family; the c.439A>G (p.Lys147Glu) mutation was also identified in a further simplex SEMD case from India. Biglycan is an extracellular matrix proteoglycan that can bind transforming growth factor beta (TGF-β) and thus regulate its free concentration. In 3-dimensional simulation, both altered residues localized to the concave arc of leucine-rich repeat domains of biglycan that interact with TGF-β. The observation of recurrent BGN mutations in XLR SEMD individuals from different ethnic backgrounds allows us to define "XLR SEMD, BGN type" as a nosologic entity.

Mots-clé
Adult, Aged, Amino Acid Sequence, Biglycan/chemistry, Biglycan/genetics, Biglycan/metabolism, Child, Child, Preschool, Female, Genetic Diseases, X-Linked/genetics, Humans, Infant, Infant, Newborn, Male, Middle Aged, Mutation/genetics, Osteochondrodysplasias/genetics, Pedigree, Protein Binding, Protein Conformation, Sequence Homology, Amino Acid, Transforming Growth Factor beta/chemistry, Transforming Growth Factor beta/genetics, Transforming Growth Factor beta/metabolism
Pubmed
Open Access
Oui
Création de la notice
14/06/2016 16:15
Dernière modification de la notice
20/08/2019 15:53
Données d'usage