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KMID : 0361720130240030195
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Korean Journal of perinatology
2013 Volume.24 No. 3 p.195 ~ p.198
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Oculocutaneous Albinism Type 1 Diagnosed by Genetic Study in a Newborn Infant
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Ahn Young-Joon
Kim Chun-Soo
Lee Sang-Lak
Kim Dae-Kwang
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Abstract
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Oculocutaneous Albinism (OCA) is a heterogenous autosomal recessive disorder characterized by defective melanin biosynthesis. Physical findings including white scalp hair and depigmented skin of whole body in newborn infants are important clinical features of OCA 1. We report a newborn case of OCA 1 with two different TYR mutations, and gene defects of the baby revealed to be originated from both parents carriers of OCA.
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KEYWORD
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Oculocutaneous albinism, TYR, Mutation, OCA 1
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