Oculodentodigital Dysplasia with a Novel Mutation in GJA1 Diagnosed by Targeted Gene Panel Sequencing: A Case Report and Literature Review

Ann Clin Lab Sci. 2018 Nov;48(6):776-781.

Abstract

Oculodentodigital dysplasia (ODDD; MIM #164200), a rare genetic disorder characterized by abnormal craniofacial, dental, ocular, and digital features, is caused by mutations in the gap junction alpha-1 (GJA1) gene. We report a case of a 6-year-old male who presented with dysmorphic facial features (short palpebral fissure, thin nose with hypoplastic alae nasi, and flat face), bilateral syndactyly, abnormal dentition, and proportionate short stature with growth hormone deficiency. A novel de novo heterozygous missense mutation (c.221A>C, p.H74P) in GJA1 was identified by targeted gene panel sequencing. This is the first case report of a novel ODDD-causing mutation in GJA1 confirmed by genetic analysis in Korea.

Keywords: Connexin 43; GJA1; Oculodentodigital dysplasia; Targeted gene panel sequencing.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Child
  • Connexin 43 / genetics*
  • Craniofacial Abnormalities / diagnostic imaging
  • Craniofacial Abnormalities / genetics*
  • DNA Mutational Analysis
  • Eye Abnormalities / diagnostic imaging
  • Eye Abnormalities / genetics*
  • Foot Deformities, Congenital / diagnostic imaging
  • Foot Deformities, Congenital / genetics*
  • Gap Junctions / pathology
  • Humans
  • Male
  • Mutation / genetics*
  • Syndactyly / diagnostic imaging
  • Syndactyly / genetics*
  • Tooth Abnormalities / diagnostic imaging
  • Tooth Abnormalities / genetics*

Substances

  • Connexin 43
  • GJA1 protein, human

Supplementary concepts

  • Oculodentodigital Dysplasia