Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan
Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan
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DOI：
10.1086/382195
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发表时间：
2004-03-01
影响因子：
9.8
通讯作者：
Tomita, Y
中科院分区：
文献类型：
--
作者：
Inagaki, K;Suzuki, T;Tomita, Y
眼皮肤白化病是一种复杂的遗传病，具有很大的临床异质性。到目前为止，已经报告了四种不同类型的OCA(OCA1、OCA2、OCA3和OCA4)。最近在一名土耳其OCA患者中，MATP被报告为第四种病理基因，但尚未有其他OCA4患者的报告。在这里，我们报告了OCA4的突变情况，这是通过对大量患有OCA的日本人的MATP基因的遗传分析确定的。在筛查的75名无关患者中，18人(24%)被确认患有OCA4；他们包含7个新的突变，包括4个错义突变(P58S、D157N、G188V和V507L)和3个移码突变(S90CGGCCA-->；GC、V144insAAGT和V469delG)，表明MATP是日本患者酪氨酸酶阳性OCA最常见的基因座。我们讨论了每个突变等位基因的功能性黑素生成活性，从患者的表型和基因类型之间的关系来看。这是第一份关于OCA4患者大群体的报告。
Oculocutaneous albinism (OCA) is a complex genetic disease with great clinical heterogeneity. Four different types of OCA have been reported to date (OCA1, OCA2, OCA3, and OCA4). MATP was recently reported in a single Turkish OCA patient as the fourth pathological gene, but no other patients with OCA4 have been reported. Here, we report the mutational profile of OCA4, determined by genetic analysis of the MATP gene in a large Japanese population with OCA. Of 75 unrelated patients that were screened, 18 individuals (24%) were identified as having OCA4; they harbored seven novel mutations, including four missense mutations (P58S, D157N, G188V, and V507L) and three frameshift mutations (S90CGGCCA-->GC, V144insAAGT, and V469delG), showing that MATP is the most frequent locus for tyrosinase-positive OCA in Japanese patients. We discuss the functional melanogenic activity of each mutant allele, judging from the relationship between the phenotypes and genotypes of the patients. This is the first report on a large group of patients with OCA4.