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

Department of Medical Genetics, Zhongshan Medical College, Sun Yat-sen University, Guangzhou, Guangdong Province, China. lihongyi@mail.sysu.edu.cn

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. (c) 2007 John Wiley & Sons, Ltd.

PMID: 17385796 [PubMed - indexed for MEDLINE]