A NOVEL MUTATION ASSOCIATED WITH DENTINOGENESIS IMPERFECTA IN A PATIENT WITH HEARING LOSS: A CASE REPORT

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naseri Farnoosh; MOROVVATI SAEID

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Journal: JOURNAL OF MAZANDARAN UNIVERSITY OF MEDICAL SCIENCES Year:2018 | Volume:28 | Issue:165 Page(s): 183-188

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Title

A NOVEL MUTATION ASSOCIATED WITH DENTINOGENESIS IMPERFECTA IN A PATIENT WITH HEARING LOSS: A CASE REPORT

Author(s)

naseri Farnoosh | MOROVVATI SAEID | Issue Writer Certificate

Keywords

DENTINOGENESIS IMPERFECTAQ1

DSPPQ1

DENTAL DEFECTSQ3

DEAFNESSQ1

Abstract

DENTINOGENESIS IMPERFECTA (DI) is an inherited disorder affecting dentin. Defective dentinformation results in discolored teeth that are prone to attrition and fracture. Mutation in dentinand the main gene in this disease is DSPP. Heterozygous mutations in this gene cause toothsialophosphoprotein (DSPP) causes dentin disorders DI I and II. Imperfecta is a dominant autosomal traitthat affects both dual and permanent dental systems. In both sexes, there are clinically yellow-brown teethand 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 thesecond place causes dentin cavitation and abrasion. This study, reports a 9-year-old child with hearing loss attending the Rasad Laboratory. Thepatient's blood was studied by the NGS method and the DSPP mutation was identified. To confirm themutation, a primer was designed for the mutation point and DNA extraction and PCR technique wereperformed. Afterwards, DSPP gene was sequenced. Following the sequencing of the genome by the NGS method, heterozygous mutations were foundin the DSPP gene. The patient had a defect in dental gene but had completely healthy teeth and a lowfrequency of hearing. The father of the child was then studied and was found with a heterozygousmutation in the DSPP gene. The disease is dominant autosomal defect and can also cause DEAFNESS in some cases. In thisreport, the patient had only hearing loss without any symptoms of DENTAL DEFECTS.

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APA: Copy

naseri, Farnoosh, & MOROVVATI, SAEID. (2018). A NOVEL MUTATION ASSOCIATED WITH DENTINOGENESIS IMPERFECTA IN A PATIENT WITH HEARING LOSS: A CASE REPORT. JOURNAL OF MAZANDARAN UNIVERSITY OF MEDICAL SCIENCES, 28(165 ), 183-188. SID. https://sid.ir/paper/45365/en

Vancouver: Copy

naseri Farnoosh, MOROVVATI SAEID. A NOVEL MUTATION ASSOCIATED WITH DENTINOGENESIS IMPERFECTA IN A PATIENT WITH HEARING LOSS: A CASE REPORT. JOURNAL OF MAZANDARAN UNIVERSITY OF MEDICAL SCIENCES[Internet]. 2018;28(165 ):183-188. Available from: https://sid.ir/paper/45365/en

IEEE: Copy

Farnoosh naseri, and 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, vol. 28, no. 165 , pp. 183–188, 2018, [Online]. Available: https://sid.ir/paper/45365/en

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