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首页> 外文期刊>Egyptian Journal of Medical Human Genetics >A novel nonsense mutation in cathepsin C gene in an Egyptian patient presenting with Papillon–Lefèvre syndrome
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A novel nonsense mutation in cathepsin C gene in an Egyptian patient presenting with Papillon–Lefèvre syndrome

机译：埃及帕皮隆-勒夫弗综合征的患者组织蛋白酶C基因的一个新的无意义的突变

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Background Cathepsin C gene (CTSC) (MIM# 602365 ) is a lysosomal cysteine proteinase coding gene which encodes for CTSC protein that plays a major role in the activation of granule serine proteases, particularly leukocyte elastase and granzymes A and B. This activity was proposed to play a role in epithelial differentiation and desquamation. Mutations that cause Disruption in the CTSC expression or function will result in loss of immunological response such as defects of phagocytic function and deregulation of localized polymorphonuclears response with subsequent clinical manifestation. Aim The aim of this study is to detect the mutation in CTSC gene expected to be the cause of Papillon Lefèvre syndrome (PLS) in an Egyptian patient clinically diagnosed as PLS and to characterize the clinical features. Patient and methods A 5 year and 3 month old girl from the outpatient’s Oro-Dental Genetics clinic – National Research Center presented with the typical clinical findings of Papillon Lefevre syndrome. Genomic DNA was extracted from peripheral blood samples of the patient, her parents and 20 healthy Egyptian controls using standard procedures. All exons of the CTSC gene were amplified by PCR. Sequence analysis of the patient, her parents and controls was performed for mutation detection. Results Mutation analysis of the CTSC gene in our patient revealed a novel homozygous nonsense mutation in exon 5 (W237X). Her parents revealed the presence of the same mutation in a heterozygous state. The 20 controls showed only the wild type sequence of all exons (no mutation). Conclusion This study reported a novel nonsense mutation in the CTSC gene in an Egyptian patient. This novel nonsense mutation is predicted to produce truncated dipeptidyl-peptidase1 causing PLS phenotype in this patient.
机译：背景组织蛋白酶C基因（CTSC）（MIM＃602365）是一种溶酶体半胱氨酸蛋白酶编码基因，其编码CTSC蛋白，在粒状丝氨酸蛋白酶（尤其是白细胞弹性蛋白酶和颗粒酶A和B）的活化中起主要作用。在上皮分化和脱皮中起作用。导致CTSC表达或功能中断的突变将导致免疫反应丧失，例如吞噬功能缺陷和局部多形核反应的失调以及随后的临床表现。目的这项研究的目的是在临床诊断为PLS的埃及患者中检测有望引起PapillonLefèvre综合征（PLS）的CTSC基因突变，并鉴定其临床特征。患者和方法来自门诊的Oro-Dental遗传学诊所-国家研究中心的一名5岁3个月大的女孩介绍了Papillon Lefevre综合征的典型临床表现。使用标准程序从患者，其父母和20名埃及健康对照的外周血样本中提取基因组DNA。通过PCR扩增CTSC基因的所有外显子。对患者，她的父母和对照进行序列分析以检测突变。结果我们患者中CTSC基因的突变分析显示外显子5（W237X）有一个新的纯合性无义突变。她的父母发现杂合子状态下存在相同的突变。 20个对照仅显示所有外显子的野生型序列（无突变）。结论这项研究报告了埃及患者CTSC基因中的一个新的无意义突变。预计这种新的无意义突变会导致该患者产生截短的二肽基-肽酶1，引起PLS表型。

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