Genetic variants analysis and histological observation of teeth in a patient with hereditary opalescent dentin / 北京大学学报(医学版)

OBJECTIVE@#To analyze the clinical characteristics and the genetic cause of a Chinese patient with hereditary opalescent dentin, and to make an observation of the histologic and elemental features of the affected teeth.@*METHODS@#We enrolled a patient affected with hereditary opalescent dentin. The medical history was collected and clinical examinations were performed for the phenotypic analyses. The blood sample was collected for DNA extraction and PCRs of the coding sequence of DSPP were done for sanger sequencing. The teeth samples were collected for histological evaluation and elemental analysis.@*RESULTS@#The patient showed typical clinical manifestations of opalescent dentin and had enamel dysplasia and skeletal class III malocclusion. Several polymorphisms (c.727G>A, c.897A>G, c.2053_2054ins18bp, c.2548G>A, c.2645_2646ins9bp, c.2706T>C, c.2878A>G, c.3004A>G, c.3069_3086del18bp, c.3249A>C, c.3264T>C, c.3266_3400del135bp, c.3418A>G, c.3454G>A, c.3461_3462ins18bp, c.3606C>T) but no pathogenic mutations were identified in DSPP. The histological analyses of the patient's teeth showed characteristic abnormalities that were significantly different from normal teeth. The dentin tubules of the affected teeth were decreased in number and sparsed in arrangement, while in the control teeth, they were more regular. The enamel-dentin junction of the affected teeth was abnormal in its less scallopped outline compared with the control teeth under the scanning electronic microscopy. The Mg proportion of the patient's teeth (0.615 0%±0.261 6%) was lower than that of the control teeth (1.283 3%±0.322 1%), the P value was 0.040. The Ca proportion was the higher compared with the control teeth (34.865 0%±0.388 9% vs. 29.221 7%±2.248 4%), the P value was 0.015. The Ca/P ration of the patient's teeth was 1.981 2±0.019 3, which was higher than that of control teeth (1.775 9±0.111 6), the P value was 0.049. The differences of Mg, Ca proportion and Ca/P ration between the affected teeth and the control teeth were significant. The C and O proportion of the patient's teeth were lower and the P proportion was higher compared with the control teeth, however, the differences were not significant.@*CONCLUSION@#Our study of clinical manifestation analysis, genetic variants sequencing and histological observation has enlarged the phenotypic spectrum of hereditary opalescent dentin, and the genetic and histological results would contribute to further studies.

Dentinogenesis imperfecta: a review and case report of a family over four generations.

Dentinogenesis imperfecta (DGI) is one of the most common hereditary disorders of dentin formation. It follows an autosomal dominant pattern of transmission, affecting both the formation and mineralization of dentin. Either or both primary and permanent dentition is affected by it. This paper briefly reviews the manifestations of DGI Type II (DGI1) and presents a case report of a family affected with DGI1 over four generations.

Aspectos genéticos da dentinogênese imperfeita tipo II e relato de caso / Genetic aspects of the dentinogenesis impecfect type II and case report

Relata-se o caso clínico de um paciente do sexo masculino, de 35 anos, com dentinogênese imperfeita tipo II, que até então não apresentava diagnóstico, apesar de submetido a diversos tratamentos odontológicos. Através do relato do paciente e de seus familiares, foi possível estabelecer o heredograma para cinco gerações da família. Abordam-se também os aspectos gerais da patologia, com ênfase na identificação do loco responsável por esta doença autossômica dominante

Dentinogênese imperfeita tipo II: relato de casos em uma família / Dentinogenesis imperfecta type II: case reports in one family

A dentinogênese imperfeita é uma alteraçäo de caráter hereditário autossômico dominante simples que afeta a dentina das dentiçöes decídua e permanente. Os autores apresentam casos de dentinogênese imperfeita tipo II em uma mesma família, ressaltando a importância de um diagnóstico precoce e tratamento adequado visando minimizar futuras alteraçöes na funçäo e na estética

Dentinogenesis Inperfecta. Report of three cases in an Indian family.

An Indian family with Type II Dentinogenesis Imperfecta is reported in which the pedigree was traced through four generations. Clinical and radiological examination was done in three individuals in the family studied, which showed variation in expression of colour and attrition. No clinical evidence of Osteogenesis Imperfecta was noted in any of the family members. Theoretical considerations regarding the development of this disorder and its clinical features are presented.