title: Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease.
abstract: Camurati-Engelmann disease (CED; MIM 131300), or progressive diaphyseal dysplasia, is a rare, sclerosing bone dysplasia inherited in an autosomal dominant manner. Recently, the gene causing CED has been assigned to the chromosomal region 19q13 (refs 1-3). Because this region contains the gene encoding transforming growth factor-beta 1 (TGFB1), an important mediator of bone remodelling, we evaluated TGFB1 as a candidate gene for causing CED.
authors.affiliation: Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
authors.forename: K
authors.initials: K
authors.lastname: Janssens
authors.forename: R
authors.initials: R
authors.lastname: Gershoni-Baruch
authors.forename: N
authors.initials: N
authors.lastname: Guañabens
authors.forename: N
authors.initials: N
authors.lastname: Migone
authors.forename: S
authors.initials: S
authors.lastname: Ralston
authors.forename: M
authors.initials: M
authors.lastname: Bonduelle
authors.forename: W
authors.initials: W
authors.lastname: Lissens
authors.forename: L
authors.initials: L
authors.lastname: Van Maldergem
authors.forename: F
authors.initials: F
authors.lastname: Vanhoenacker
authors.forename: L
authors.initials: L
authors.lastname: Verbruggen
authors.forename: W
authors.initials: W
authors.lastname: Van Hul
mesh_terms: D016723:Bone Remodeling / Q000235:genetics; D003966:Camurati-Engelmann Syndrome / Q000235:genetics*; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D004252:DNA Mutational Analysis; D005799:Genes, Dominant; D006801:Humans; D010012:Osteogenesis / Q000235:genetics; D010446:Peptide Fragments / Q000235:genetics* / Q000378:metabolism; D011498:Protein Precursors / Q000235:genetics* / Q000378:metabolism; D011499:Protein Processing, Post-Translational; D021382:Protein Sorting Signals / Q000235:genetics*; D021381:Protein Transport / Q000235:genetics; D016212:Transforming Growth Factor beta / Q000096:biosynthesis* / Q000235:genetics; D053773:Transforming Growth Factor beta1
chemical_list: D010446:Peptide Fragments; D011498:Protein Precursors; D021382:Protein Sorting Signals; C508960:TGFB1 protein, human; D016212:Transforming Growth Factor beta; D053773:Transforming Growth Factor beta1