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

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. We...

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Bibliographic Details
Published in:BMC genetics 2010-02, Vol.11 (1), p.23-23
Main Authors: Bai, Haihua, Agula, Hasi, Wu, Qizhu, Zhou, Wenyu, Sun, Yujing, Qi, Yue, Latu, Suya, Chen, Yujie, Mutu, Jiri, Qiu, Changchun
Format: Article
Language:English
Subjects:
Asian Continental Ancestry Group - genetics
Colleges & universities
Demographic aspects
Dentinogenesis Imperfecta - genetics
Enamel
Extracellular Matrix Proteins - genetics
Female
Gene mutations
Genetic aspects
Genetics
Haplotypes
Health aspects
Humans
Male
Mongolia
Mutation
Pedigree
Phenotype
Phosphoproteins - genetics
Risk factors
RNA Splicing
Sequence Analysis, DNA
Sialoglycoproteins - genetics
Tooth Abnormalities
Tooth diseases
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Summary: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. 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. All affected individuals showed discoloration and severe attrition of their teeth, with obliterated pulp chambers and without progressive high frequency hearing loss or skeletal abnormalities. No recombination was found at five polymorphic markers flanking DSPP in the family. Direct DNA sequencing identified a novel A-->G transition mutation adjacent to the donor splicing site within intron 3 in all affected individuals but not in the unaffected family members and 50 unrelated Mongolian individuals. This study identified a novel mutation (IVS3+3A-->G) in DSPP, which caused DGI-II in a large Mongolian family. This expands the spectrum of mutations leading to DGI-II.
ISSN:1471-2350
1471-2156
1471-2350
1471-2156
DOI:10.1186/1471-2350-11-23