Congenital Orbital Fibrosis: Molecular Genetic Analysis by Whole-Exome and Mitochondrial Genome Sequencing

Yonsei Med J. 2017 Sep;58(5):1078-1080. doi: 10.3349/ymj.2017.58.5.1078.

Abstract

A 3-year-old girl presented with congenital orbital fibrosis. We performed molecular genetic analysis by whole exome and mitochondrial genome sequencing. No pathologic mutation was identified in the present case. To our best knowledge, this study presents the first report on the findings of mutational analysis of a patient with congenital orbital fibrosis.

Keywords: DNA mutational analysis; Fibrosis; orbit.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • DNA Mutational Analysis
  • Exome Sequencing*
  • Female
  • Fibrosis
  • Fundus Oculi
  • Genome, Mitochondrial*
  • Humans
  • Magnetic Resonance Imaging
  • Mutation / genetics
  • Orbit / pathology*
  • Orbital Diseases / congenital*
  • Orbital Diseases / genetics*