Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease.
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.
Janssens
K
K
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Gershoni-Baruch
R
R
Guañabens
N
N
Migone
N
N
Ralston
S
S
Bonduelle
M
M
Lissens
W
W
Van Maldergem
L
L
Vanhoenacker
F
F
Verbruggen
L
L
Van Hul
W
W
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
D010446:Peptide Fragments; D011498:Protein Precursors; D021382:Protein Sorting Signals; C508960:TGFB1 protein, human; D016212:Transforming Growth Factor beta; D053773:Transforming Growth Factor beta1