Review
Research progress of clinical symptoms and molecular mechanism of albinism
Zhang Yingzhen, Jin Caihong, Li Donglu
Published 2022-02-15
Cite as Int J Genet, 2022, 45(1): 31-37. DOI: 10.3760/cma.j.cn231536-20210722-00096
Abstract
Albinism is a type of genetic disease in which melanin biosynthesis in melanocytes is completely lost or reduced due to genetic mutations.It is mainly manifested as reduced or missing skin, hair, and eye pigmentation.A small number of syndrome patients also suffer from symptoms of other systems in addition to systemic hypopigmentation.For example, Chediak-Higashi syndrome (CHS) can exhibit high susceptibility to hematological changes, infections, bleeding and neurological problems; Hermansky-Pudlak syndrome (HPS) has inflammatory bowel disease, neutropenia caused by bleeding and death and pulmonary fibrosis.Albinism is mainly inherited in autosomal recessive inheritance with a high degree of genetic heterogeneity.At present, there are 20 idendified genes that are related to different clinical manifestations of albinism, such as pathogenic genes of non-comprehensive albinism (ocular Albinism, OA) GPR143, AROA; the main pathogenic genes of oculocutaneous albinism (oculocutaneous albinism, OCA) TYR, P genes, TYRP1, SLC45A2, OCA5, SLC24A5, C10ORF11; Albinism syndrome CHS pathogenic gene is only LYST, and syndrome HPS pathogenic genes that are about 10, namely HPS1, AP3B1, HPS3, HPS4, HPS5, HPS6, DTNBP1, BLOC1S3, BLOC1S6, AP3D1.Albinism gene mutation types are mainly point mutations, including missense mutations, nonsense mutations, frameshift mutations and splice site mutations.There is currently no cure for albinism.Patients are extremely vulnerable to ultraviolet radiation damage and skin cancer due to reduced or missing skin, hair, and eye pigments.Regular preventive examinations or symptomatic treatment of patients can control the further development of the disease.Prohibition of marriage of close relatives through genetic counseling, and prenatal genetic diagnosis can also prevent the birth of children with this disease.For many people with albinism, the social and psychological burdens such as low self-esteem and relatively poor social life ability may be greater than medical problems and deserve more attention.
Key words:
Albinism; Clinical features; Molecular mechanism; Research progress
Contributor Information
Zhang Yingzhen
Basic College of Gansu Medical College, Pingliang 744000, China
Jin Caihong
Basic College of Gansu Medical College, Pingliang 744000, China
Li Donglu
Basic College of Gansu Medical College, Pingliang 744000, China