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

Li Hongyi, Wei Haiyun, Zheng Hui, Wenren Qing, Duan Honglei, Meng Shu, Jiang Weiying

Research output: Contribution to journalArticlepeer-review

13 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)502-506
Number of pages5
JournalPrenatal Diagnosis
Issue number6
StatePublished - Jun 2007


  • Albinism
  • Gene mutation
  • OCA2
  • P gene
  • Prenatal diagnosis

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Genetics(clinical)


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