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Keywords:

  • albinism;
  • OCA2;
  • gene mutation;
  • prenatal diagnosis;
  • P gene

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.