A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family.

ABSTRACT:

Background

Several studies have shown that the clinical phenotypes of dentinogenesis imperfecta type II (DGI-II) may be caused by mutations in dentin sialophosphoprotein (DSPP). However, no previous studies have documented the clinical phenotype and genetic basis of DGI-II in a Mongolian family from China.

Methods

We identified a large five-generation Mongolian family from China with DGI-II, comprising 64 living family members of whom 22 were affected. Linkage analysis of five polymorphic markers flanking DSPP gene was used to genotype the families and to construct the haplotypes of these families. All five DSPP exons including the intron-exon boundaries were PCR-amplified and sequenced in 48 members of this large family.

Results

All affected individuals showed discol

SUBMITTER: Bai H 

PROVIDER: S-EPMC2829541 | biostudies-literature | 2010 Feb

REPOSITORIES: biostudies-literature