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Related Experiment Video

Updated: May 28, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

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Published on: August 15, 2019

VSX2 mutations in autosomal recessive microphthalmia.

Linda M Reis1, Ayesha Khan, Ariana Kariminejad

  • 1Department of Pediatrics and Children’s Research Institute at the Medical College of Wisconsin, Children’s Hospital of Wisconsin, Milwaukee, WI, USA.

Molecular Vision
|October 7, 2011
PubMed
Summary
This summary is machine-generated.

Mutations in the Visual System Homeobox 2 (VSX2) gene are a significant cause of autosomal recessive microphthalmia in families with consanguinity. Further research highlights the CVC motif

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Area of Science:

  • Genetics
  • Ophthalmology
  • Developmental Biology

Background:

  • Autosomal recessive microphthalmia is a severe congenital eye disorder.
  • The Visual System Homeobox 2 (VSX2/CHX10) gene plays a crucial role in eye development.
  • Previous studies have linked VSX2 mutations to microphthalmia.

Purpose of the Study:

  • To investigate the spectrum of mutations in the VSX2 gene associated with autosomal recessive microphthalmia.
  • To identify novel mutations and understand their functional impact.

Main Methods:

  • Screening of 95 probands with ocular developmental conditions for VSX2 mutations.
  • Genetic analysis of consanguineous families with isolated microphthalmia.

Main Results:

  • Homozygous VSX2 mutations were found in two of five consanguineous families.
  • A novel missense mutation (p.G223A) in the CVC motif was identified in a Pakistani family.
  • A previously reported truncating mutation (p.Leu84SerfsX57) was identified in an Iranian family.

Conclusions:

  • VSX2 mutations are a key cause of autosomal recessive microphthalmia in consanguineous populations.
  • The CVC motif is critical for VSX2 function, as evidenced by the impact of the p.G223A mutation.