SLC45A2 and oculocutaneous albinism: This hypothesis is further supported by the literature, since a previous study reporting a sister and a brother affected by congenital neutropenia and oculocutaneous albinism identified a nonsense mutation in the G6PC3 gene (c.829C > T, p.Gln277*) responsible for the development of congenital neutropenia and frameshift mutation in the SLC45A2 gene (c.986delC, p.T329Rfs*68), which could explain the OCA phenotype [10].