Mutations in the PRSS56 Gene Linked to Nanophthalmos
Author Information
Author(s): Orr Andrew, Dubé Marie-Pierre, Zenteno Juan C., Jiang Haiyan, Asselin Geraldine, Evans Susan C., Caqueret Aurore, Lakosha Hesham, Letourneau Louis, Marcadier Julien, Matsuoka Makoto, Macgillivray Christine, Nightingale Mathew, Papillon-Cavanagh Simon, Perry Scott, Provost Sylvie, Ludman Mark, Guernsey Duane L., Samuels Mark E.
Primary Institution: Dalhousie University
Hypothesis
Identifying additional genes for nanophthalmos will enhance understanding of eye growth regulation.
Conclusion
The PRSS56 gene is a strong candidate for causing nanophthalmos in the studied families.
Supporting Evidence
- A linked locus on chromosome 2q37 was identified with a peak LOD score of 4.7.
- Multiple segregating variants were found in the PRSS56 gene among affected families.
- One family was homozygous for a pathogenic missense mutation in PRSS56.
Takeaway
Some people have very small eyes because of a gene called PRSS56, which can cause problems with vision.
Methodology
Families with nanophthalmos were studied using genetic linkage analysis and sequencing of candidate genes.
Limitations
The study was limited to a small number of families and may not represent all cases of nanophthalmos.
Participant Demographics
Families from eastern Canada and Mexico with a history of nanophthalmos.
Statistical Information
P-Value
p<0.05
Statistical Significance
p<0.05
Want to read the original?
Access the complete publication on the publisher's website