1例USP7基因自发突变致Hao-Fountain综合征的病例特点分析并文献复习  

Characteristic Analysis and Literature Review of A Case of Hao-Fountain Syndrome Caused by Spontaneous Mutation of USP7 Gene

作　　者：潘小姣 肖楠 孙中厚[3] Pan Xiaojiao;Xiao Nan;Sun Zhonghou(Department of Pediatrics,Dezhou Women's and Children's Hospital Weifang Medical College,Dezhou 253000,Shandong Province,China;Dezhou Lingcheng District Yidukou Town Central Health Center,Dezhou 253506,Shandong Province,China;Department of Pediatrics,Weifang People's Hospital,Weifang 261044,Shandong Province,China)

机构地区：[1]德州市妇女儿童医院潍坊医学院儿科,山东德州253000 [2]德州市陵城区义渡口镇中心卫生院,山东德州253506 [3]潍坊市人民医院儿科,山东潍坊261044

出　　处：《中外医药研究》2024年第29期72-74,共3页JOURNAL OF CHINESE AND FOREIGN MEDICINE AND PHARMACY RESEARCH

摘　　要：回顾分析德州市妇女儿童医院1例因泛素特异性蛋白酶7(USP7)基因自发突变所致Hao-Fountain综合征患儿的临床资料,该女性患儿因语言及智力发育落后1年就诊,查体表情淡漠,眼神交流少,眼距宽,小下颌,眼球略凹陷,眼窝略深。基因检测USP7基因有1个杂合突变,确诊为Hao-Fountain综合征。USP7基因突变属于杂合突变,导致USP7蛋白缺失,不能完成正常的细胞周期,考虑该基因的突变与神经发育障碍有关。患儿后期随访尤为重要,应定期随访患儿生长发育水平,早期发现异常,及早进行科学干预,尽可能提高患儿生活质量。The clinical data of a patient with Hao-Fountain syndrome caused by spontaneous mutation of ubiquitin-specific protease 7(USP7)gene in Dezhou Women's and Children's Hospital were retrospectively analyzed.The female child was diagnosed with a one-year lag in language and intellectual development.She had a low expression,little eye contact,wide eye distance,small jaw,slightly sunken eyeball and slightly deep eye socket.A heterozygous mutation in the USP7 gene was identified as Hao-Fountain syndrome.The mutation of USP7 gene is a heterozygous mutation,which leads to the deletion of USP7 protein and the inability to complete the normal cell cycle.It is considered that the mutation of this gene is related to neurodevelopmental disorders.Later follow-up of children is particularly important,and the growth and development level of children should be regularly followed up,early detection of abnormalities,early scientific intervention,and as far as possible to improve the quality of life of children.

关 键 词：USP7基因 泛素特异性蛋白酶7 Hao-Fountain综合征 无义突变 

分 类 号：R725.9[医药卫生—儿科]