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Analysis of PTEN Gene Mutations in a Turkish Patient with Cowden Syndrome

机译：在土耳其PTEN基因突变分析Cowden综合症患者

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摘要

Cowden syndrome (CS), an autosomal dominant disorder, is associated with germline mutations of the PTEN (phosphatase, tensin homolog, deleted on chromosome TEN) gene. PTEN mutations were linked to several human neoplasms. Clinical diagnosis has been based on Consortium criteria, but detection of mutations in the PTEN gene has importance in accurate diagnosis. This article presents a female patient with classic features of the syndrome and gives the result of first PTEN mutation analysis result in a Turkish CS patient. The patient, who suffered from trichilemmomas, papillomatous lesions, lipomas, thyroid lesions, gastrointestinal hamarto-mas, and fibrocystic disease of the breast, is consistent with the diagnostic criteria of CS. The exons and intron/exon boundaries of the PTEN gene were analyzed by polymerase chain reaction and direct sequencing. We analyzed the clinical features and DNA in a Turkish patient with CS. We found a single-nucleotide sub-stitution in the splicing acceptor site of intron 5 of the PTEN gene (IVS5-2A > C). It is not clear whether which types of PTEN mutations are responsible for particular phenotypes. This germline PTEN mutation, IVS5-2A –> C, has been reported once before, but the clinical features differ from our patient. Also, this is the first reported PTEN mutation from Turkey.
机译：Cowden综合征(CS),一个常染色体显性遗传障碍,与遗传突变有关PTEN(磷酸酶,tensin同系物,删除10号染色体上)基因。与几位人类的肿瘤。诊断根据联盟标准,但检测PTEN基因的突变准确诊断的重要性。提出了一种女性患者典型的特征的综合症,让第一次的结果PTEN基因突变分析导致土耳其CS病人。甲状腺病变,胃肠道hamarto-mas,和乳腺纤维囊性乳腺疾病与计算机科学的诊断标准一致。外显子和内含子/外显子PTEN的边界基因聚合酶链反应进行了分析和直接测序。在土耳其CS患者功能和DNA。发现了一个单核苷酸sub-stitutionPTEN的剪接受体的基因内区5基因(IVS5-2A > C)。目前尚不清楚类型的PTEN突变负责特定的表型。突变,IVS5-2A - > C,据报道一次前,但临床特征不同于我们病人。来自土耳其的突变。

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