DSPP mutation in dentinogenesis imperfecta Shields type II.
We identified a nonsense mutation (Gln45stop) in exon 3 of the dentin sialophosphoprotein (DSPP) gene in a Chinese family with dentinogenesis imperfecta Shields type II (DGI-II), in which the affected members showed discoloration and severe attrition of their teeth, with obliterated pulp chambers.
Zhang
X
X
National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences/Peking Union Medical College, Beijing, China.
Zhao
J
J
Li
C
C
Gao
S
S
Qiu
C
C
Liu
P
P
Wu
G
G
Qiang
B
B
Lo
W H
WH
Shen
Y
Y
D044466:Asian People / Q000235:genetics; D002681:China; D003811:Dentinogenesis Imperfecta / Q000145:classification / Q000235:genetics*; D016326:Extracellular Matrix Proteins; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010750:Phosphoproteins / Q000235:genetics*; D011498:Protein Precursors / Q000235:genetics*; D012795:Sialoglycoproteins / Q000235:genetics*; D000099311:Dentin Sialophosphoprotein
D016326:Extracellular Matrix Proteins; D010750:Phosphoproteins; D011498:Protein Precursors; D012795:Sialoglycoproteins; D000099311:Dentin Sialophosphoprotein