A Novel Mutation Associated with Dentinogenesis Imperfecta in a Patient with Hearing Loss: A Case Report
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...
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| Format: | Article |
| Language: | English |
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Mazandaran University of Medical Sciences
2018-10-01
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| Series: | Journal of Mazandaran University of Medical Sciences |
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| Online Access: | http://jmums.mazums.ac.ir/article-1-10750-en.html |
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| author | Farnoosh Naseri Saeid Morovvati |
| author_facet | Farnoosh Naseri Saeid Morovvati |
| author_sort | Farnoosh Naseri |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-10T20:30:01Z |
| format | Article |
| id | doaj.art-c484e7bec2594defa6075d9bd8615489 |
| institution | Directory Open Access Journal |
| issn | 1735-9260 1735-9279 |
| language | English |
| last_indexed | 2024-04-10T20:30:01Z |
| publishDate | 2018-10-01 |
| publisher | Mazandaran University of Medical Sciences |
| record_format | Article |
| series | Journal of Mazandaran University of Medical Sciences |
| spelling | doaj.art-c484e7bec2594defa6075d9bd86154892023-01-25T07:28:50ZengMazandaran University of Medical SciencesJournal of Mazandaran University of Medical Sciences1735-92601735-92792018-10-0128165183188A Novel Mutation Associated with Dentinogenesis Imperfecta in a Patient with Hearing Loss: A Case ReportFarnoosh Naseri0Saeid Morovvati1 MSc in Genetics, Faculty of Basic Sciences, Islamic Azad University, East Tehran Branch, Tehran, Iran MD, PhD in Genetics, Research Center for Human Genetics, Baqiyatallah University of Medical Sciences, Tehran, Iran 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.http://jmums.mazums.ac.ir/article-1-10750-en.htmldentinogenesis imperfectadsppdental defectsdeafness |
| spellingShingle | Farnoosh Naseri Saeid Morovvati A Novel Mutation Associated with Dentinogenesis Imperfecta in a Patient with Hearing Loss: A Case Report Journal of Mazandaran University of Medical Sciences dentinogenesis imperfecta dspp dental defects deafness |
| title | A Novel Mutation Associated with Dentinogenesis Imperfecta in a Patient with Hearing Loss: A Case Report |
| title_full | A Novel Mutation Associated with Dentinogenesis Imperfecta in a Patient with Hearing Loss: A Case Report |
| title_fullStr | A Novel Mutation Associated with Dentinogenesis Imperfecta in a Patient with Hearing Loss: A Case Report |
| title_full_unstemmed | A Novel Mutation Associated with Dentinogenesis Imperfecta in a Patient with Hearing Loss: A Case Report |
| title_short | A Novel Mutation Associated with Dentinogenesis Imperfecta in a Patient with Hearing Loss: A Case Report |
| title_sort | novel mutation associated with dentinogenesis imperfecta in a patient with hearing loss a case report |
| topic | dentinogenesis imperfecta dspp dental defects deafness |
| url | http://jmums.mazums.ac.ir/article-1-10750-en.html |
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