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


CONCLUSIONS
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.
Hongyi
Li
L
Department of Medical Genetics, Zhongshan Medical College, Sun Yat-sen University, Guangzhou, Guangdong Province, China. lihongyi@mail.sysu.edu.cn
Haiyun
Wei
W
Hui
Zheng
Z
Qing
Wenren
W
Honglei
Duan
D
Shu
Meng
M
Weiying
Jiang
J
D016115:Albinism, Oculocutaneous / Q000175:diagnosis* / Q000235:genetics; D000649:Amniocentesis; D044466:Asian People / Q000235:genetics; D002648:Child; D002681:China; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D006801:Humans; D026901:Membrane Transport Proteins / Q000235:genetics; D020125:Mutation, Missense; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis
D026901:Membrane Transport Proteins; C489600:OCA2 protein, human