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Article

Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism

  • Authors:
    • Jung Min Ko
    • Jung-Ah Yang
    • Seon-Yong Jeong
    • Hyon-Ju Kim
  • View Affiliations / Copyright

    Affiliations: Department of Pediatrics, Seoul National University Children's Hospital, Seoul 110-769, Republic of Korea, Genetics Clinic and Laboratory, Ajou University Hospital, Ajou University School of Medicine, Suwon 443-721, Republic of Korea, Department of Medical Genetics, Ajou University School of Medicine, Suwon 443-721, Republic of Korea
  • Pages: 943-948
    |
    Published online on: January 25, 2012
       https://doi.org/10.3892/mmr.2012.764
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Abstract

Oculocutaneous albinism (OCA) is a group of inherited disorders characterized by defective melanin biosynthesis. OCA1, the most common and severe form, is caused by mutations in the tyrosinase (TYR) gene. OCA4, caused by mutations in the SLC45A2 gene, has frequently been reported in the Japanese population. To determine the mutational spectrum in Korean OCA patients, 12 patients were recruited. The samples were first screened for TYR mutations, and negative samples were screened for SLC45A2 mutations. OCA1 was confirmed in 8 of 12 (66.7%) patients, and OCA4 was diagnosed in 1 (8.3%) patient. In the OCA1 patients, a total of 6 distinct TYR mutations were found in 15 of 16 (93.8%) alleles, all of which had been previously reported. Out of the 6 alleles, c.929insC was the most frequently detected (31.3%), and was mainly associated with OCA1A phenotypes. Other TYR mutations identified included c.1037-7T>A/c.1037-10delTT, p.D383N, p.R77Q and p.R299H. These largely overlapped with mutations found in Japanese and Chinese patients. The SLC45A2 gene analysis identified 1 novel mutation, p.D93N, in 1 patient. This study has provided information on the mutation spectrum in Korean OCA patients, and allows us to estimate the relative frequencies of OCA1 and OCA4 in Korea.
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Copy and paste a formatted citation
Spandidos Publications style
Ko J, Yang J, Jeong S and Kim H: Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism. Mol Med Rep 5: 943-948, 2012.
APA
Ko, J., Yang, J., Jeong, S., & Kim, H. (2012). Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism. Molecular Medicine Reports, 5, 943-948. https://doi.org/10.3892/mmr.2012.764
MLA
Ko, J., Yang, J., Jeong, S., Kim, H."Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism". Molecular Medicine Reports 5.4 (2012): 943-948.
Chicago
Ko, J., Yang, J., Jeong, S., Kim, H."Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism". Molecular Medicine Reports 5, no. 4 (2012): 943-948. https://doi.org/10.3892/mmr.2012.764
Copy and paste a formatted citation
x
Spandidos Publications style
Ko J, Yang J, Jeong S and Kim H: Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism. Mol Med Rep 5: 943-948, 2012.
APA
Ko, J., Yang, J., Jeong, S., & Kim, H. (2012). Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism. Molecular Medicine Reports, 5, 943-948. https://doi.org/10.3892/mmr.2012.764
MLA
Ko, J., Yang, J., Jeong, S., Kim, H."Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism". Molecular Medicine Reports 5.4 (2012): 943-948.
Chicago
Ko, J., Yang, J., Jeong, S., Kim, H."Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism". Molecular Medicine Reports 5, no. 4 (2012): 943-948. https://doi.org/10.3892/mmr.2012.764
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