Correlation Engine 2.0
Clear Search sequence regions

  • 2 c (1)
  • 2 para (1)
  • adult (1)
  • anophthalmia (6)
  • case report (1)
  • factors (2)
  • female (1)
  • fetus (1)
  • gene (2)
  • gfs 90 (1)
  • gravida 2 (1)
  • homeobox (1)
  • Homeodomain Proteins (2)
  • humans (1)
  • husband (2)
  • parents (3)
  • patient (3)
  • pregnancy (1)
  • pregnant (2)
  • proband (1)
  • protein human (1)
  • VSX2 (6)
  • vsx2 protein human (1)
  • woman (2)
  • Sizes of these terms reflect their relevance to your search.

    Although rare, several mutations in the gene VSX2 (visual system homeobox 2, formerly CHX10) have been associated with congenital autosomal recessive anophthalmia (absence of one or both eyes). This report describes a proband, who at presentation was gravida 2, para 0, and 30 weeks pregnant. A 30-year-old woman with congenital bilateral anophthalmia was 30 weeks pregnant at the time of presentation. Her parents were fourth-generation collateral blood relatives, and the familial congenital disease history suggested a possible genetic cause for her anophthalmia. Next generation sequencing and Sanger sequencing of blood samples of the patient, her parents, and her husband were conducted. The fetus was examined via ultrasound. The woman patient had a homozygous variation of the VSX2 gene (NM_182894.2) c.634delC (p.R211 Gfs*90). Both of her parents carried a heterozygous variation of this locus. The husband showed no pathogenic variation in VSX2. The fetal ultrasound revealed bilateral eyeball lenses. A healthy girl was delivered at 41 weeks gestation, with bilateral eyeballs visible. Homogenous mutation of VSX2 c.634delC (p.R211Gfs*90) has not been reported previously. The patient's congenital bilateral anophthalmia was due to this homogenous mutation, the result of familial inbreeding. Avoiding near-relative marriage is an important means of preventing such diseases.


    Jing Wang, Mei-Ling Yu, Fu-Mei Xie, Lin-Jiao Chen. Anophthalmia Caused by Familial Homozygous Mutation of VSX2: a Case Report. Clinical laboratory. 2022 Jun 01;68(6)

    Expand section icon Mesh Tags

    Expand section icon Substances

    PMID: 35704733

    View Full Text