Prenatal diagnosis of oculocutaneous albinism type II and novel mutations in two Chinese families

Abstract Objective The prenatal genetic diagnosis and counseling of oculocutaneous albinism type II (OCA2) by detecting mutations in the OCA2 gene Methods DNA samples were extracted from peripheral whole blood and amniocentesis‐derived cells. Polymerase chain reaction and automatic sequence analysis were used to screen the OCA2 gene. Results Case 1: Two novel heterozygous mutations (p.N476D and p.Y827H) in the P gene were detected in the proband. Molecular prenatal diagnosis on fetal DNA revealed N476D. The pregnancy progressed uneventfully to a normal outcome. Case 2: Mutation analysis of the DNA of family 2 revealed compound heterozygosities for two novel P gene mutations (p.N476D and p.G775R). The pregnant female and the fetus each presented with a single P gene mutation (p.V443I and G775R, respectively). The pregnancy was continued. Conclusion This is the first report of prenatal diagnosis performed in families with oculocutaneous albinism type II (OCA2). Also, this report reveals three novel mutations of the P gene. Copyright © 2007 John Wiley & Sons, Ltd.