KATNA1 gene variants may explain about 4% of unresolved macular dystrophy cases.
Missense variants in KATNA1 alter microtubule dynamics and underlie dominant macular dystrophy.
Karolina Kaminska … Carlo Rivolta
Research square · 2026
Background
Inherited retinal diseases (inherited retinal diseases) encompass a broad spectrum of genetic conditions leading to visual impairment.
Results
~4%
gene defect confirmed in a small but real share of unexplained cases
n = 21 individuals
More results
In this study, we identify KATNA1 , encoding the catalytic p60 subunit of the microtubule-severing enzyme katanin, as a previously unrecognized cause of autosomal dominant macular dystrophy (adMD), a form of inherited retinal diseases.
More results
Specifically, we could ascertain the presence of 10 heterozygous missense changes affecting six conserved amino acids in 21 individuals from 16 unrelated families from various parts of the world, all presenting with non-syndromic MD of variable severity.
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Conclusion
Together, these results establish KATNA1 as a novel gene associated with adMD, possibly accounting for ~4% of all unresolved MD cases, and associate defective microtubule severing and cytoskeletal dysregulation with macular degeneration.