Journal: American Journal of Human Genetics
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A complex cause of heritable blindness
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A new genetic cause of retinitis pigmentosa, an inherited disorder that causes vision loss, has been uncovered.
Dozens of genes have been linked to the degenerative eye condition, but many afflicted families still lack a molecular diagnosis because they don’t carry mutations in any of these genes.
Now, a team that included scientists from the University of Cape Town has identified a region on chromosome 17 of the human genome where various complex structural variants accounted for the disease.
To better understand how the variants affected cellular function, the team created stem cells from afflicted individuals and turned them into retinal tissue. They found that the genetic changes in chromosome 17 altered the three-dimensional organization of the genome in ways that led to gene misexpression.
This new mechanism provides a new genetic alteration to test for in patients with unexplained retinitis pigmentosa.
- The American Journal of Human Genetics 107, 802-814 (2020). doi: 10.1016/j.ajhg.2020.09.002