A study with a homozygous missense single nucleotide variants (SNVs) in RAB28 in a pair of siblings from a consanguineous family reported significant retinal degeneration and postaxial polydactyly (PAP) wherein the transcript levels of Rab28 were unperturbed but its ciliary localization was abrogated (Jespersgaard et al., 2020). This evidence concerns the gene RAB28 and pulmonary alveolar proteinosis.