title: [A de novo mutation of P gene causes oculocutaneous albinism type 2 with prenatal diagnosis].
abstract: OBJECTIVE
  To determine the genotype of a family affected with oculocutaneous albinism (OCA) and to provide genetic counseling and prenatal diagnosis.
  
  
  METHODS
  To 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.
  
  
  RESULTS
  The 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.
  
  
  CONCLUSIONS
  A 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.
authors.affiliation: Department of Medical Genetics, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou, Guangdong 510080, P.R. China.
authors.forename: Liyun
authors.initials: L
authors.lastname: Zhang
authors.forename: Bei
authors.initials: B
authors.lastname: Xu
authors.forename: Yanfang
authors.initials: Y
authors.lastname: Zhong
authors.forename: Xiaofei
authors.initials: X
authors.lastname: Chen
authors.forename: Hui
authors.initials: H
authors.lastname: Zheng
authors.forename: Weiying
authors.initials: W
authors.lastname: Jiang
authors.forename: Hongyi
authors.initials: H
authors.lastname: Li
mesh_terms: D000328:Adult; D016115:Albinism, Oculocutaneous / Q000175:diagnosis* / Q000235:genetics*; D001483:Base Sequence; D002675:Child, Preschool; D005091:Exons; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D026901:Membrane Transport Proteins; C489600:OCA2 protein, human