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Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient

机译：白人患者眼皮白化病与TYRP1基因突变

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摘要

Non-syndromic oculocutaneous albinism (OCA) is a clinically and genetically heterogeneous autosomal recessive disorder with mutations identified in several genes: OCA1 (tyrosinase, TYR), OCA2 (OCA2), OCA3 (tyrosinase-related protein 1, TYRP1), and OCA4 (membrane-associated transporter protein, MATP). OCA3 was thought to be restricted to black populations, where it was clinically described as rufous or brown albinism, until the recent report of a homozygous TYRP1 mutation in Caucasian patients from a consanguineous Pakistani family. Here, we describe a German patient of Caucasian origin, with a light-yellow skin, yellow-gold hair with orange highlights, fair eyelashes, several pigmented naevi, and no tendency to tan, only to burn. Eye-colour is blue-green with substance defects of the iris. Molecular analysis did not reveal any mutation in the TYR and OCA2 genes. Two mutations were found in the TYRP1 gene: a missense mutation (c.1066G > A/p.Arg356Glu) that was inherited from the mother, and a de novo single-base deletion (c.106delT/p.Leu36X). This finding suggests that mutation screening should be extended to the TYRP1 gene in patients from all ethnic origins, at least in cases where no mutations have been identified in the other OCA genes.
机译：非综合征性眼皮肤白化病（OCA）是一种临床和遗传上异源的常染色体隐性遗传疾病，其突变存在以下几种基因：OCA1（酪氨酸酶，TYR），OCA2（OCA2），OCA3（酪氨酸酶相关蛋白1，TYRP1）和OCA4（膜相关转运蛋白MATP）。 OCA3被认为仅限于黑人人群，在临床上被描述为红褐色或棕色白化病，直到最近有报道称来自巴基斯坦血缘家族的高加索人患者中纯合型TYRP1突变。在这里，我们描述了一位来自白种人的德国患者，皮肤浅黄色，金黄色的头发，橙色高光，睫毛鲜亮，有一些深色的色素，没有晒黑的趋势，只会燃烧。眼睛的颜色为蓝绿色，具有虹膜的实质缺陷。分子分析未显示TYR和OCA2基因有任何突变。在TYRP1基因中发现了两个突变：从母亲继承的错义突变（c.1066G> A / p.Arg356Glu）和从头单碱基缺失（c.106delT / p.Leu36X）。这一发现表明，至少在其他OCA基因中未发现突变的情况下，来自所有种族的患者均应将突变筛查扩展至TYRP1基因。

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