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

[dentinogenesis imperfecta]

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 (IVS 3 +3 A-->G ) in DSPP , which caused DGI -II in a large Mongolian family . This expands the spectrum of mutations leading to DGI -II .

Diseases
Validation

Diseases presenting "dgi-ii" symptom

dentinogenesis imperfecta

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