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Prenat Diagn. 2007 Jun;27(6):502-6.

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

Author information

1
Department of Medical Genetics, Zhongshan Medical College, Sun Yat-sen University, Guangzhou, Guangdong Province, China. lihongyi@mail.sysu.edu.cn

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.

PMID:
17385796
DOI:
10.1002/pd.1713
[Indexed for MEDLINE]

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