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Analyses of Missense Mutations in Two Families with Hypomaturation Amelogenesis Imperfecta. | LitMetric

AI Article Synopsis

  • Amelogenesis imperfecta is a rare genetic disorder affecting tooth enamel, and this study aimed to identify the genetic causes in two families with hypomaturation form of the condition.
  • DNA from family members was analyzed using whole exome sequencing, leading to the discovery of specific mutations in both families.
  • The findings highlight the genetic diversity in amelogenesis imperfecta and provide insights into how different mutations can influence the observed clinical traits.

Article Abstract

Amelogenesis imperfecta is a group of rare inherited disorders that affect tooth enamel formation, quantitatively and/or qualitatively. The aim of this study was to identify the genetic etiologies of two families presenting with hypomaturation amelogenesis imperfecta. DNA was isolated from peripheral blood samples obtained from participating family members. Whole exome sequencing was performed using DNA samples from the two probands. Sequencing data was aligned to the NCBI human reference genome (NCBI build 37.2, hg19) and sequence variations were annotated with the dbSNP build 138. Mutations in were identified in both probands. A homozygous missense mutation (c.678T>A; p.His226Gln) was identified in the consanguineous Family 1. Compound heterozygous mutations (c.540T>A, p.Tyr180 and c.389C>T, p.Thr130Ile) were identified in the non-consanguineous Family 2. Affected persons in Family 1 showed hypomaturation AI with dark brown discoloration, which is similar to the clinical phenotype in a previous report with the same mutation. However, the dentition of the Family 2 proband exhibited slight yellowish discoloration with reduced transparency. Functional analysis showed that the p.Thr130Ile mutant protein had reduced activity of MMP20, while there was no functional MMP20 in the Family 1 proband. These results expand the mutational spectrum of the and broaden our understanding of genotype-phenotype correlations in amelogenesis imperfecta.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5397402PMC
http://dx.doi.org/10.3389/fphys.2017.00229DOI Listing

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