Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality

Conclusion
Our findings support biallelic predicted deleterious ATP13A3 variants in autosomal recessive, childhood-onset PAH, indicating likely semidominant dose-dependent inheritance for this gene.

Source: Journal of Medical Genetics - August 19, 2022 Category: Genetics & Stem Cells Authors: Machado, R. D., Welch, C. L., Haimel, M., Bleda, M., Colglazier, E., Coulson, J. D., Debeljak, M., Ekstein, J., Fineman, J. R., Golden, W. C., Griffin, E. L., Hadinnapola, C., Harris, M. A., Hirsch, Y., Hoover-Fong, J. E., Nogee, L., Romer, L. H., Vesel, Tags: Open access Novel disease loci Source Type: research