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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 영남대학교 의과대학 Journal of Yeungnam Medical Science Yeungnam University Journal of Medicine 제38권 제2호
- 발행연도
- 2021.1
- 수록면
- 160 - 164 (5page)
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초록· 키워드
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Oculocutaneous albinism (OCA) is a group of rare genetically heterogeneous disorders, characterized by hypopigmentation of the eyes, skin, and hair, which result in ocular abnormalities and a risk of developing skin cancer. Currently, there is no ophthalmologic procedure or drug that prevents the clinical features of OCA. Here, we report a new type of OCA in two, unrelated Korean families with the same OCA2 mutation. Affected individuals in this study are different from those of previous reports in two aspects: an inheritance pattern and clinical presentation. All reported patients with OCA have shown an autosomal recessive inheritance pattern, while our patients showed an autosomal dominant inheritance pattern. Small amounts of pigment can be acquired with age in OCA, but there is no substantial variation from adolescence to adulthood in this regard. A case where the patient attained normal pigmentation levels has never been reported. However, our patients displayed completely normal pigmentation in their late twenties. Whole exome sequencing and in-silico analysis revealed a novel mutation, OCA2 c.2338G>A p.(G780S) (NM_000275) with a high likelihood of pathogenicity. Sanger sequencing of p.G780S identified the same mutation in the affected individuals, which was not found in the family members with normal phenotype. We hypothesize that OCA2 G780S not only acts as a pathogenic variant of OCA but also induces pigmentation by enhancing the melanogenesis gene expression of other modifier genes, such as SLC45A2 and TPC2. These findings may provide further understanding of melanin biosynthesis and new treatment methods for OCA.
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참고문헌 (20)
참고문헌 신청
Johanson HC / 2010 / Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community / J Hum Genet 55:103~111
Prota G / 1992 / The role of peroxidase in melanogenesis revisited / Pigment Cell Res 1992;Suppl 2(Suppl 2):25~31
Wang H / 2019 / Novel compound heterozygous mutations in OCA2 gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient : a case report / BMC Med Genet 20:130
Dessinioti C / 2009 / A review of genetic disorders of hypopigmentation : lessons learned from the biology of melanocytes / Exp Dermatol 18:741~749
Yang Q / 2019 / Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations / BMC Med Genet 20:106
Prota G / 1992 / The role of peroxidase in melanogenesis revisited / Pigment Cell Res 1992;Suppl 2(Suppl 2):25~31
Wang H / 2019 / Novel compound heterozygous mutations in OCA2 gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient : a case report / BMC Med Genet 20:130
Dessinioti C / 2009 / A review of genetic disorders of hypopigmentation : lessons learned from the biology of melanocytes / Exp Dermatol 18:741~749
Yang Q / 2019 / Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations / BMC Med Genet 20:106
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