Skip to main content
eScholarship
Open Access Publications from the University of California

UCSF

UC San Francisco Electronic Theses and Dissertations bannerUCSF

Identification of an Enamelin Defect Resulting in Amelogenesis Imperfecta

  • Author(s): Massie, Jessica Claire
  • Advisor(s): Den Besten, Pamela
  • Le, Thuan Q
  • et al.
Abstract

Identification of an Enamelin Defect Resulting in Amelogenesis Imperfecta

Jessica Claire Massie

ABSTRACT

Purpose: The purpose of this study was to identify the genetic defect in a child, which resulted in Amelogenesis Imperfecta (AI) using saliva collected from a routine patient visit.

Methods: A 10-year old female presented to the UCSF Pediatric Dental Clinic with sensitivity and esthetic concerns. She and her 59-year old father, both indicated a history significant for AI. Saliva was collected from the proband, her affected father, and her unaffected mother using the Oragene DNA collection kit from which their DNA was manually purified. A family history was taken to identify the mode of inheritance and enamelin (ENAM) was chosen as a candidate gene. Primer sets were generated to amplify the entire ENAM gene, and amplified products were sequenced.

Results: The family pedigree revealed an autosomal dominant inheritance pattern for AI. A clinical exam revealed a mixed dentition with generalized rough, pitted, yellow-brown enamel consistent with the hypoplastic phenotype reported for AI resulting from a defect in the enamel matrix protein, enamelin. PCR amplification of genomic DNA revealed a novel mutation in exon 7, at g.10602C>G that replaces Pro with Arg, which would alter the protein structure.

Conclusion: When patients present with inherited tooth defects, the dentist's role is to describe the phenotype and obtain a family pedigree of the inheritance pattern. Additionally, collecting a patient's saliva is a simple, painless procedure, which can be used for DNA purification, mutational analysis, and diagnosis of inherited tooth defects such as AI.

Main Content
Current View