A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy
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A relatively common gene mutation among Japanese individuals can give rise to vision problems through a complex inheritance pattern.
Hereditary eye diseases usually arise from rare DNA mutations that follow classic genetic patterns to cause vision loss or blindness.
Now, scientists from Tohoku University Graduate School of Medicine and elsewhere conducted a genomic screen of 331 unrelated Japanese patients with degeneration of the eye’s retinal tissue. They discovered three mutations in RP1, a gene previously linked to an eye disorder called retinitis pigmentosa.
Two mutations behaved as recessive mutations, meaning that patients with two copies of the gene variant experienced vision loss. The third mutation, however, did not follow this classical ‘Mendelian’ pattern.
Patients with the third mutation showed signs of retinal disease only if they also carried another type of mutation in RP1 or in another vision-associated gene.
The findings should help clinicians better diagnose the genetic basis of vision loss, especially among East Asian individuals.
- Nature Communications 10, 2884 (2019). doi: 10.1038/s41467-019-10746-4