A novel DSPPmutation causes dentinogenesis imperfecta type II in a large Mongolian family
نویسندگان
چکیده
منابع مشابه
Dentinogenesis imperfecta type II: an affected family saga.
Dentinogenesis imperfecta (DI) type II or hereditary opalescent dentin is inherited in simple autosomal dominant mode with high penetrance and low mutation rate. It generally affects both the deciduous and permanent dentitions. DI type II corresponds to a localized form of mesodermal dysplasia, observed in histodifferentiation. Early diagnosis and treatment are therefore, fundamental, aiming at...
متن کاملA Novel Splicing Mutation Alters DSPP Transcription and Leads to Dentinogenesis Imperfecta Type II
Dentinogenesis imperfecta (DGI) type II is an autosomal dominant disease characterized by a serious disorders in teeth. Mutations of dentin sialophosphoprotein (DSPP) gene were revealed to be the causation of DGI type II (DGI-II). In this study, we identified a novel mutation (NG_011595.1:g.8662T>C, c.135+2T>C) lying in the splice donor site of intron 3 of DSPP gene in a Chinese Han DGI-II pedi...
متن کاملDentinogenesis imperfecta type II: A case report with 17 years of follow-up
Dentinogenesis imperfecta is a dominant autosomal hereditary disorder of dentin formation that affects the deciduous and permanent teeth. Its etiology is characterized by inadequate cell differentiation during odontogenesis. The clinical characteristics of dentinogenesis imperfecta are discolored teeth with a translucency that varies from gray to brown or amber. Radiographically, the teeth exhi...
متن کاملIntrafibrillar mineral may be absent in dentinogenesis imperfecta type II (DI-II).
High-resolution synchrotron radiation computed tomography (SRCT) and small-angle x-ray scattering (SAXS) were performed on normal and dentinogenesis imperfecta type II (DI-II) teeth. The SRCT showed that the mineral concentration was 33% lower on average in the DI-II dentin with respect to normal dentin. The SAXS spectra from normal dentin exhibited low-angle diffraction peaks at harmonics of 6...
متن کاملAn integrated treatment approach: a case report for dentinogenesis imperfecta type II.
Dentinogenesis imperfecta type II or hereditary opalscent dentin is one of the most common autosomal dominant anomaly of dentin that occurs in both sex affecting approximately 1:8000 persons. Clinically this disorder is characterized by variable blue gray to yellow brown teeth, with fracture of enamel and excessive wear. The treatment strategy is focused towards protecting teeth from further we...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: BMC Medical Genetics
سال: 2010
ISSN: 1471-2350
DOI: 10.1186/1471-2350-11-23