A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene
A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene
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DOI：
10.1111/j.1365-2133.2005.06403.x
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发表时间：
2005-01-01
影响因子：
10.3
通讯作者：
Tomita, Y
中科院分区：
文献类型：
--
作者：
Suzuki, T;Inagaki, K;Tomita, Y
眼皮肤白化病（OCA）IV型（OCA 4; MIM 606574）是一种常染色体隐性遗传的色素沉着疾病，其特征是皮肤、头发和眼睛中黑色素的生物合成减少。在OCA 4患者中发现了许多色素沉着表型。1 MATP（membrane-associated transporter protein，AIM-1，antigen in melanoma 1）基因是OCA的第四个致病基因。22001年，在一名土耳其OCA患者中首次报告了MATP突变，2我们在75名日本OCA患者中的18名日本OCA患者中报告了7种新的突变。1此外，在176名德国白化病患者中，有5名患者患有OCA 4。3这是第一个韩国患者的OCA由MATP基因突变（OCA 4）引起的报告。
Oculocutaneous albinism (OCA) type IV (OCA4; MIM 606574) is an autosomal recessive disorder of pigmentation characterized by reduced biosynthesis of melanin pigment in the skin, hair and eye. Very many pigmentation phenotypes have been found in patients with OCA4. 1 The MATP (membrane-associated transporter protein, or AIM-1, antigen in melanoma 1) gene was identified as the fourth pathological gene for OCA. 2 A mutation in MATP was first reported in 2001 in a Turkish patient with OCA, 2 and we have reported seven novel mutations in 18 Japanese patients with OCA4 from among 75 Japanese patients with OCA. 1 Additionally, five patients with OCA4 from among 176 German patients with albinism have been reported. 3 This is the first report of a Korean patient with OCA caused by a mutation in the MATP gene (OCA4).