Abstract: Objective To decipher the clinical characteristics and genetic bases of Dentinogenesis imperfecta type II in a large Mongolian family. Methods Systematic analysis towards this family was carried out using clinical detection. Results Affected individuals of Dentinogenesis imperfecta type II were consecutively found in a five-generation family. The morbidity of the offsprings is nearly 1/2 and no sexual difference is observed. The analysis of clinical features as well as dental x-ray film show that it is not completely the same compared with other families. Conclusions Dentinogenesis imperfecta type II in this Mongolian family pertains to autosomal dominant disorder with high genetic heterogeneity in clinical phenotype. Further study is warranted to investigate the association of this heterogeneity with lifestyle or genetic information.

Key words: Mongolian, Dentinogenesis imperfecta type II, pedigree