Genetic Variants in Anophthalmia and Microphthalmia
Author Information
Author(s): White Tristan, Lu Tianyi, Metlapally Ravikanth, Katowitz James, Kherani Femida, Wang Tian-Yuan, Tran-Viet Khanh-Nhat, Young Terri L.
Primary Institution: Duke University Medical Center
Hypothesis
Sequence variants in either STRA6 or SKI may give rise to the A/M phenotype.
Conclusion
The STRA6 sequence variants reported in this study could play a role in the pathogenesis of A/M by structural changes to the STRA6 protein.
Supporting Evidence
- A novel coding non-synonymous sequence variant was found in one subject, resulting in an amino acid change.
- One novel nonsense sequence variant was found in the same subject, resulting in a premature stop codon.
- A known coding non-synonymous sequence variant was found in 3 subject DNA samples and 11 control DNA samples.
Takeaway
This study looked at genes that might cause eye problems in kids. They found some changes in a gene that could be linked to these issues.
Methodology
The study screened STRA6 and SKI for sequence variants by direct sequencing of genomic DNA samples from 18 affected subjects and 93 unrelated controls.
Limitations
The small cohort size and diverse nature of the disease phenotypes make it difficult to extrapolate the incidence rate of STRA6 mutations in the general A/M population.
Participant Demographics
The cohort consisted of 18 patients with anophthalmia/microphthalmia, including various ages and races.
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