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首页> 外文期刊>Balkan journal of medical genetics: BJMG >A new splice-site mutation of SPINK5 gene in the Netherton syndrome with different clinical features: A case report
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A new splice-site mutation of SPINK5 gene in the Netherton syndrome with different clinical features: A case report

机译：Netherton综合征的催化态突变与不同临床特征的新的剪接 - 位点突变：案例报告

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Netherton syndrome (NS) is a rare genodermatosis characterized by the triad of ichthyosiform erythroderma, hair shaft abnormality and an atopic diathesis. We report a case of a 20-year-old male patient presented with pruritus, decreased sweat secretion and generalized erythema on his body. Netherton syndrome is caused by mutations in the SPINK5 gene that is a crucial role for epidermal barrier function in the skin. Different clinical and phenotypical features can occur based on various LEKTI-domains mutations. Diagnosis is made by the atopic story, hair shaft abnormality, cutaneous lesions and identification of the SPINK5 gene mutation. In our patient, we detected a new splice site mutation in the SPINK5 gene and pili annulati as hair abnormality. Affected patients are usually misdiagnosed because of cutaneous lesions such as atopic dermatitis. Therefore, each clinical finding should be evaluated together. We aimed to present a case with a new SPINK5 gene mutation and different clinical features in NS.
机译：Netherton综合征（NS）是一种稀有的发生遗传性，其特征在于特征化学性红霉，毛轴异常和特应素质。我们举报了一个20岁的男性患者患有瘙痒，在他的身体上减少了汗水分泌和广义红斑。 Netherton综合征是由Spink5基因中的突变引起的，这对于皮肤表皮阻隔功能是一种至关重要的作用。基于各种lekti-域突变，可以发生不同的临床和表型特征。诊断是通过特应故事，毛轴异常，皮肤病变和施用Spink5基因突变的鉴定。在我们的患者中，我们在Spink5基因和Pili Annulati中检测到一种新的剪接位点突变，如头发异常。由于皮肤病变如特应性皮炎，受影响的患者通常是误诊。因此，应一起评估每个临床发现。我们的目标是在NS中提出一种新的Spink5基因突变和不同的临床特征。

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