Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality.
Rajiv D MachadoCarrie L WelchMatthias HaimelMarta BledaElizabeth ColglazierJohn D CoulsonMarusa DebeljakJosef EksteinJeffrey R FinemanWilliam Christopher GoldenEmily L GriffinCharaka HadinnapolaMichael A HarrisYoel HirschJulie Elizabeth Hoover-FongLawrence M NogeeLewis H RomerSamo Veselnull nullStefan GräfNicholas W MorrellLaura SouthgateWendy K ChungPublished in: Journal of medical genetics (2021)
Our findings support biallelic predicted deleterious ATP13A3 variants in autosomal recessive, childhood-onset PAH, indicating likely semidominant dose-dependent inheritance for this gene.