New Progress in Molecular Genetics Research of Albinism

Abstract

Albinism is a clinical and genetic heterogeneity disease associated with reduced melanin biosynthesis, characterized by visual system defects, manifested as poor vision, accompanied by varying degrees of pigment deficiency. The pigment deficiency can affect the eyes, skin, and hair in Oculocutaneous Albinism (OCA) or Oculocutaneous Albinosis (OA) that only affects the eyes. Currently, 21 genes related to albinism have been identified, including 7 OCA related genes (TYR, OCA2, TYRP1, SLC45A2, SLC24A5, LRMDA, and DCT), 1 OA related gene (GPR143), 1 FHONDA (SLC38A8), 1 CHS related gene (LYST), and 11 PHS related genes (HPS1, AP3B1, HPS3, HPS4, HPS5, HPS6, DTNBP1, BLOC1S3, BLOC1S6, AP3D1, and BLOC1S5). This article reviews the progress of molecular genetics research on albinism, with the aim of providing new ideas for prenatal or early diagnosis of albinism patients.