title: Molecular analysis of Korean patients with oculocutaneous albinism.
abstract: OBJECTIVE
  To perform molecular analysis of five Korean patients with oculocutaneous albinism (OCA) and review the clinical and genetic characteristics of 21 Korean OCA patients.
  
  
  METHODS
  TYR, OCA2 and SLC45A2 were analyzed by direct DNA sequencing in five unrelated OCA patients who received thorough ophthalmic evaluation.
  
  
  RESULTS
  We identified three different TYR mutations in three patients (c.929dupC, R278X, and R52I), among which the latter two had been previously reported in other populations, but are reported here for the first time in a Korean context. In one patient we identified two different mutations of OCA2 [c.1784+1G>A and c.1842G>T (K614N)]. One patient was confirmed to have OCA4 by detecting two SLC45A2 mutations [c.469G>A (D157N) and c.686G>A (C229Y)]. OCA1A (66.7%) was the most common subtype in 21 Korean albinism patients, and 70% of patients were heterozygotes for 2 different mutational alleles. c.929dupC (54.8%) and R77Q (16.1%) were the most frequent mutational alleles of TYR in Koreans.
  
  
  CONCLUSIONS
  Three mutational alleles, R278X and R52I of the TYR gene and C229Y of the SLC45A2 gene, are added to the mutational spectra of Korean patients with OCA, and we report the first Korean case of OCA2 with the OCA2 gene mutations.
authors: Department of Ophthalmology and Visual Science, College of Medicine, The Catholic University of Korea, Seoul, Korea.
authors: Shin Hae
authors: SH
authors: Park
authors: Hyojin
authors: H
authors: Chae
authors: Yonggoo
authors: Y
authors: Kim
authors: Myungshin
authors: M
authors: Kim
mesh_terms: D000293:Adolescent; D000328:Adult; D016115:Albinism, Oculocutaneous / Q000235:genetics* / Q000473:pathology; D000951:Antigens, Neoplasm / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D008875:Middle Aged; D008967:Molecular Biology; D014442:Monophenol Monooxygenase / Q000235:genetics*; D009154:Mutation; D056910:Republic of Korea; D055815:Young Adult
chemical_list: D000951:Antigens, Neoplasm; D026901:Membrane Transport Proteins; C489600:OCA2 protein, human; C510061:SLC45A2 protein, human; D014442:Monophenol Monooxygenase