The gene AP3D1 is located on chromosome 19p13.3 and encodes the subunit of the AP3 complex, which plays a role in intracellular vesicle trafficking to lysosomes and lysosome-related organelles. Homozygous variants in AP3D1 cause an autosomal recessive multisystem disorder characterized by oculocutaneous albinism, primary immunodeficiency, interstitial lung disease, as well as neurodevelopmental delay, seizures, and dysmorphic facies.
Ammann et al. (2016) reported a boy, born in a consanguineous Turkish family, with Hermansky-Pudlak syndrome 10 and homozygous truncating variants in AP3D1.
Diagnostic testing is usually performed via multi-gene panel and exome / genome sequencing.
AP3D1