17q12微缺失综合征合并CRYBB2基因错义突变一例报道  

17q12 microdeletion syndrome with CRYBB2 missense mutation:a case report

作　　者：谭惠婷 杨婷婷[1] 陈文湛 徐梓筠 陈乐山 胡海应 陈幼明 陈劲松[1] 许雪娟[1] TAN Huiting;YANG Tingting;CHEN Wenzhan(Department of Endocrinology,The First People's Hospital of Foshan,Foshan 528000,China)

机构地区：[1]佛山市第一人民医院内分泌科,528000

出　　处：《中国糖尿病杂志》2024年第7期546-548,共3页Chinese Journal of Diabetes

基　　金：佛山市“十四五”医学高水平重点专科建设项目(FSGSP145007)。

摘　　要：17q12微缺失综合征属于罕见遗传病,以新发突变常见,可引起泌尿生殖系统异常、DM、神经精神类疾病、轻度畸形改变等。本文报道1例17q12微缺失综合征合并CRYBB2基因错义突变患者,合并月经异常、双肾多发囊肿、低镁血症、高尿酸血症,胰腺形态偏小,胰酶水平偏低。17q12 microdeletion syndrome is a rare genetic disease,commonly characterized by newly occurring mutations,which can cause abnormalities of the urinary and reproductive tract,diabetes mellitus,neurological and psychiatric disorders and mild deformities.This article reports a case of 17q12 microdeletion syndrome with CRYBB2 gene missense mutation,combined with menstrual abnormalities,multiple cysts in both kidneys,hypomagnesemia,hyperuricemia,small pancreatic morphology and low pancreatic enzyme levels.

关 键 词：17q12微缺失综合征 CRYBB2 糖尿病 错义突变 

分 类 号：R596[医药卫生—内科学]