OBJECTIVETo determine the genotype of a family affected with oculocutaneous albinism (OCA) and to provide genetic counseling and prenatal diagnosis.

METHODSTo determine the genotypes and mutational sites through PCR and sequencing for all exons and exon-intron junctions of 4 OCA genes in the proband and the P gene of her parents. Prenatal genotyping of the fetus was carried out using amniocentesis sample.

RESULTSThe patient was diagnosed with OCA2 based on a genotype of c.1327G>A/c.2360C>T. Her father was heterozygous for c.2360C> T, whilst her mother has none of the two mutations. c.1327G>A is therefore a maternal de novo mutation. Neither of the mutations was found in the fetus.

CONCLUSIONA maternally inherited de novo mutation c.1327G>A has been identified in the patient. In order to detect de novo mutations, full sequence analysis is necessary.

Adult ; Albinism, Oculocutaneous ; diagnosis ; genetics ; Base Sequence ; Child, Preschool ; Exons ; Female ; Genetic Linkage ; Haplotypes ; Humans ; Membrane Transport Proteins ; genetics ; Mutation ; Pedigree ; Polymorphism, Single Nucleotide ; Pregnancy ; Prenatal Diagnosis