Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.
Camurati-Engelmann disease (CED, MIM 131300) is an autosomal dominant, progressive diaphyseal dysplasia characterized by hyperosteosis and sclerosis of the diaphyses of long bones. We recently assigned the CED locus to an interval between D19S422 and D19S606 at chromosome 19q13.1-q13.3, which two other groups confirmed. As the human transforming growth factor-1 gene (TGFB1) is located within this interval, we considered it a candidate gene for CED.
Kinoshita
A
A
Department of Human Genetics, Nagasaki University School of Medicine, Nagasaki, Japan. d399006a@stcc.nagasaki-u.ac.jp
Saito
T
T
Tomita
H
H
Makita
Y
Y
Yoshida
K
K
Ghadami
M
M
Yamada
K
K
Kondo
S
S
Ikegawa
S
S
Nishimura
G
G
Fukushima
Y
Y
Nakagomi
T
T
Saito
H
H
Sugimoto
T
T
Kamegaya
M
M
Hisa
K
K
Murray
J C
JC
Taniguchi
N
N
Niikawa
N
N
Yoshiura
K
K
D001483:Base Sequence; D001842:Bone and Bones / Q000378:metabolism; D003966:Camurati-Engelmann Syndrome / Q000235:genetics*; D016022:Case-Control Studies; D002888:Chromosomes, Human, Pair 19; D004252:DNA Mutational Analysis; D017931:DNA Primers; D018076:DNA, Complementary / Q000378:metabolism; D004220:Disulfides; D005091:Exons; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D007438:Introns; D018895:Microsatellite Repeats; D008969:Molecular Sequence Data; D009154:Mutation; D009690:Nucleic Acid Conformation; D017354:Point Mutation; D017434:Protein Structure, Tertiary; D012689:Sequence Homology, Nucleic Acid; D016212:Transforming Growth Factor beta / Q000737:chemistry* / Q000235:genetics*; D053773:Transforming Growth Factor beta1
D017931:DNA Primers; D018076:DNA, Complementary; D004220:Disulfides; C508960:TGFB1 protein, human; D016212:Transforming Growth Factor beta; D053773:Transforming Growth Factor beta1