Genetic variants of TSPAN12 gene in patients with retinopathy of prematurity

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Tongmei Zhang1, Xiaoli Sun1, Junlin Han1

  • 1Clinical College of Ophthalmology, Tianjin Eye Hospital, Tianjin Medical University, TianJin, PR China.

Journal of Cellular Biochemistry
|April 23, 2019
PubMed

Insights

Genetic mutations in TSPAN12 may contribute to retinopathy of prematurity (ROP). This study identified a specific TSPAN12 mutation (c.954G>A) potentially altering protein function, offering insights into ROP

Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Genetic susceptibility to retinopathy of prematurity (ROP) is recognized, but specific causative genes remain largely unknown.
  • Familial exudative vitreoretinopathy (FEVR) shares clinical similarities with ROP, and involves known virulence genes (FZD4, LRP5, TSPAN12, NDP).

Purpose of the Study:

  • To investigate the role of four candidate genes (FZD4, LRP5, TSPAN12, NDP) in the genetic basis of retinopathy of prematurity (ROP).
  • To screen for genetic mutations within these candidate genes in patients diagnosed with ROP.

Main Methods:

  • Genomic DNA was extracted from blood samples of 29 Han patients with ROP.
  • Direct sequencing was employed to analyze the FZD4, LRP5, TSPAN12, and NDP genes.
  • Genetic mutations within the targeted genes were identified and screened.

Main Results:

  • Three distinct nucleotide sequence changes were detected across the four candidate genes.
  • A specific hybrid mutation, c.954G>A, was identified in the TSPAN12 gene.
  • This TSPAN12 c.954G>A mutation is predicted to significantly alter protein structure and function.

Conclusions:

  • The molecular pathogenesis of retinopathy of prematurity (ROP) is complex.
  • The identified TSPAN12 c.954G>A mutation is a potential contributor to the development of ROP.

Keywords:
Han patientsfamilial exudative vitreoretinopathygenetic analysisretinopathy of prematurity

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