DSPP mutation in dentinogenesis imperfecta Shields type II

X Zhang; J Zhao; C Li; S Gao; C Qiu; P Liu; G Wu; B Qiang; W H Lo; Y Shen

doi:10.1038/84765

DSPP mutation in dentinogenesis imperfecta Shields type II

Nat Genet. 2001 Feb;27(2):151-2. doi: 10.1038/84765.

Authors

X Zhang¹, J Zhao, C Li, S Gao, C Qiu, P Liu, G Wu, B Qiang, W H Lo, Y Shen

Affiliation

¹ National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences/Peking Union Medical College, Beijing, China.

PMID: 11175779
DOI: 10.1038/84765

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Asian People / genetics
China
Dentinogenesis Imperfecta / classification
Dentinogenesis Imperfecta / genetics*
Extracellular Matrix Proteins
Female
Humans
Male
Molecular Sequence Data
Mutation*
Pedigree
Phosphoproteins / genetics*
Protein Precursors / genetics*
Sialoglycoproteins / genetics*

Substances

Extracellular Matrix Proteins
Phosphoproteins
Protein Precursors
Sialoglycoproteins
dentin sialophosphoprotein

Associated data

GENBANK/AF163151
OMIM/125490
OMIM/125647