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首页> 外文期刊>Egyptian Journal of Medical Human Genetics >Griscelli syndrome type 2 – A case report and clinical approach to silver blonde hair
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Griscelli syndrome type 2 – A case report and clinical approach to silver blonde hair

机译：Griscelli综合征2型–金色银发病例报告和临床方法

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Griscelli syndrome type 2 is a rare autosomal recessive disease caused by mutations in the RAB27A gene. It is characterized by pigmentary dilution of the skin and hair causing silvery gray hair, hemophagocytic lymphohistiocytosis and characteristic light microscopy findings in scalp hair shaft seen as large irregular clumps of pigment as opposed to the evenly distributed pigment along the hair shaft without any clumps. We describe a boy with classic features of Griscelli syndrome type 2 from Pakistan in whom a homozygous mutation in the RAB27A gene was identified that showed a single base substitution (c.598CT) predicted to cause premature protein termination (p.Arg200 ? ). We also present a clinical approach to silver blonde hair differentiating between the Griscelli syndrome types 1, 2 and 3, Chediak Hegashi Syndrome and Elejalde Syndrome.
机译：Griscelli综合征2型是由RAB27A基因突变引起的罕见常染色体隐性遗传疾病。它的特征是皮肤和头发的色素稀释，导致银白色的头发，噬血细胞的淋巴组织细胞增生和特征性光学显微镜检查发现的头皮发干是大块不规则的色素团，而不是沿着发轴均匀分布的色素没有任何团块。我们描述了一个来自巴基斯坦的具有Griscelli综合征2型经典特征的男孩，其中鉴定出RAB27A基因的纯合突变，该突变显示出单个碱基取代（c.598C> T）预计会导致蛋白质过早终止（p.Arg200？）。 。我们还提出了一种区分银金色头发的临床方法，以区分Griscelli综合征类型1、2和3，Chediak Hegashi综合征和Elejalde综合征。

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