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首页> 外文期刊>Journal of dermatological science >Oculocutaneous albinism type 3: A Japanese girl with novel mutations in TYRP1 gene.
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Oculocutaneous albinism type 3: A Japanese girl with novel mutations in TYRP1 gene.

机译：眼皮肤白化病3型：一名日本女孩，其TYRP1基因发生新突变。

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BACKGROUND: Oculocutaneous albinism (OCA) type 3 caused by mutations of the TYRP1 gene is an autosomal recessive disorder of pigmentation characterized by reduced biosynthesis of melanin pigment in the skin, hair, and eye. The clinical phenotype has been reported as mild in Caucasian OCA3 patients. OBJECTIVE: We had the opportunity to examine a Japanese girl with OCA3 and investigated activity of TYRP1 protein derived from the mutant allele detected in the patient. METHODS: Mutation search for OCA responsible genes was done. A mutant allele with a missense mutation was analyzed using melanocyte cultures (b cells) established from a mouse model of OCA3. RESULTS: Compound heterozygous mutations, p.C30R and p.367fsX384, were detected in the Japanese girl. Then we revealed that the missense mutation, p.C30R, was functionally incapable of melanin synthesis with in vitro experiments. CONCLUSION: This is the first report of the occurrence of OCA3 in Japanese population.
机译：背景：由TYRP1基因突变引起的3型眼皮肤白化病（OCA）是一种常染色体隐性色素沉着病，其特征是皮肤，头发和眼睛中黑色素色素的生物合成减少。据报道，白种人OCA3患者的临床表型为轻度。目的：我们有机会检查了一个患有OCA3的日本女孩，并研究了从患者体内检测到的突变等位基因衍生的TYRP1蛋白的活性。方法：对OCA负责基因进行了突变搜索。使用从OCA3小鼠模型建立的黑素细胞培养物（b细胞）分析了具有错义突变的突变等位基因。结果：在日本女孩中检测到复合杂合突变p.C30R和p.367fsX384。然后我们发现，通过体外实验，错义突变p.C30R在功能上无法合成黑色素。结论：这是OCA3在日本人群中的首次报道。

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