گزارش یک مورد جهش جدید مرتبط با بیماری Dentinogenesis Imperfecta در بیماری با ضعف شنوایی
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Abstract:
Dentinogenesis imperfecta (DI) is an inherited disorder affecting dentin. Defective dentin formation results in discolored teeth that are prone to attrition and fracture. Mutation in dentin and the main gene in this disease is DSPP. Heterozygous mutations in this gene cause tooth sialophosphoprotein (DSPP) causes dentin disorders DI I and II. Imperfecta is a dominant autosomal trait that affects both dual and permanent dental systems. In both sexes, there are clinically yellow-brown teeth and in radiography images, structural defects such as canopy crown and small chamomile pulp are seen. Often, the underlying mineralization defects (bone softness) cause the enamel to wear, which in the second place causes dentin cavitation and abrasion. This study, reports a 9-year-old child with hearing loss attending the Rasad Laboratory. The patient's blood was studied by the NGS method and the DSPP mutation was identified. To confirm the mutation, a primer was designed for the mutation point and DNA extraction and PCR technique were performed. Afterwards, DSPP gene was sequenced. Following the sequencing of the genome by the NGS method, heterozygous mutations were found in the DSPP gene. The patient had a defect in dental gene but had completely healthy teeth and a low frequency of hearing. The father of the child was then studied and was found with a heterozygous mutation in the DSPP gene. The disease is dominant autosomal defect and can also cause deafness in some cases. In this report, the patient had only hearing loss without any symptoms of dental defects.
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Journal title
volume 28 issue 165
pages 183- 188
publication date 2018-10
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