Mutations in the VSX2 Gene Linked to Microphthalmia
Author Information
Author(s): Linda M. Reis, Ayesha Khan, Ariana Kariminejad, Farhad Ebadi, Rebecca C. Tyler, Elena V. Semina
Primary Institution: Department of Pediatrics and Children’s Research Institute at the Medical College of Wisconsin and Children’s Hospital of Wisconsin
Hypothesis
To further explore the spectrum of mutations in the Visual System Homeobox 2 (VSX2/CHX10) gene previously found to be associated with autosomal recessive microphthalmia.
Conclusion
Mutations in VSX2 represent an important cause of autosomal recessive microphthalmia in consanguineous pedigrees.
Supporting Evidence
- Homozygous mutations in VSX2 were identified in two out of five consanguineous families with isolated microphthalmia.
- A novel missense mutation was found in a large Pakistani family with multiple affected siblings.
- A previously reported mutation was identified in an Iranian family with microphthalmia.
Takeaway
This study found that changes in a specific gene can cause a condition where people's eyes are very small, and it mostly happens in families where parents are closely related.
Methodology
The study screened 95 probands with ocular conditions for mutations in the VSX2 gene using direct DNA sequencing.
Limitations
The study was limited to consanguineous families and may not represent the broader population.
Participant Demographics
Participants included individuals from consanguineous families, primarily of West and South Asian background.
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