PTEN基因新发变异致儿童Cowden综合征1例并文献复习  

Cowden syndrome in children caused by a new mutation of PTEN gene:a case report and literature review

作　　者：韩玫瑰[1] 韩子明[1] 黄倩[1] 王凌超 李壮壮 Han Meigui;Han Ziming;Huang Qian;Wang Lingchao;Li Zhuangzhuang(Department of Pediatrics,the First Affiliated Hospital of Xinxiang Medical University,Weihui 453100,China)

机构地区：[1]新乡医学院第一附属医院儿科,卫辉453100

出　　处：《中华实用儿科临床杂志》2022年第14期1104-1106,共3页Chinese Journal of Applied Clinical Pediatrics

摘　　要：目的总结1例儿童Cowden综合征临床及基因突变特征并进行文献复习。方法回顾性分析2020年6月新乡医学院第一附属医院收治的1例Cowden综合征患儿临床资料,并以"Cowden综合征"、"PTEN基因"、"错构瘤息肉"、"儿童"、"Cowden syndrome and child"、"PTEN and child"为检索词,检索建库至2021年3月中文数据库(中国知网数据库、万方数据库)及PubMed数据库进行文献复习。结果患儿,男,13岁,间断腹痛、腹胀5个月就诊,儿童电子显微胃肠镜检查提示多发息肉,息肉组织活检见灶状淋巴细胞聚集浸润。全外显子测序发现患儿PTEN基因存在c.475(exon5)A>T杂合核苷酸变异,该变异导致第159号氨基酸由精氨酸变为色氨酸,通过蛋白三级结构预测发现该变异可能影响蛋白的空间结构,可能导致蛋白功能受到损害.结合患儿临床特点,确诊为Cowden综合征。家系验证变异遗传自母亲,母亲有类似表型。检索符合条件的中文文献0篇,与PTEN突变有关的41篇儿童病例报道的英文文献中,仅2篇报道与儿童Cowden综合征有关,该变异未见报道。结论本研究发现导致Cowden综合征的新的PTEN基因c.475(exon5)A>T突变位点,为国内首例儿童Cowden综合征病例报道。Objective To summarize the clinical and gene mutation characteristics of a child with Cowden syndrome and review the literature.Methods The clinical data of a child with Cowden syndrome treated in the First Affiliated Hospital of Xinxiang Medical University in June 2020 were analyzed retrospectively.Taking"Cowden syndrome","PTEN gene","hamartoma polyps","child","Cowden syndrome and child"and"PTEN and child"as key words,literature was retrieved from Chinese databases(China National Knowledge Internet database and Wanfang database)and the PubMed database from the establishment of the database to March 2021.Results A 13-year-old male had intermittent abdominal pain and abdominal distension for 5 months.Electron microscopic gastroenteroscopy showed multiple polyps,and focal lymphocyte aggregation and infiltration were found in tissue biopsy.Whole exon sequencing revealed a hemizygous mutation of c.475(exon5)A>T in PTEN gene,which led to the transformation of the 159th amino acid from arginine to tryptophan.The prediction results of the tertiary structure of the protein indicated that the variation might affect the spatial structure of the protein and damage the protein function.According to the clinical characteristics,Cowden syndrome was diagnosed.The pedigree confirmed that the variation was inherited from the mother,who had a similar phenotype.No qualified Chinese report was retrieved.Among 41 English studies on PTEN gene mutation in children,there were only two reports related to pediatric Cowden syndrome.The hemizygous mutation of PTEN gene was not reported.Conclusions The missense mutation of c.475(exon5)A>T in PTEN gene in this study is a novel cause of Cowden syndrome,and the case is the first case report in China.

关 键 词：Cowden综合征 PTEN基因 错构瘤息肉 儿童 

分 类 号：R725.9[医药卫生—儿科]