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

VernacularTitle:17q12微缺失综合征合并CRYBB2基因错义突变一例报道
Author: Huiting TAN ¹ ; Tingting YANG ; Wenzhan CHEN ; Zijun XU ; Leshan CHEN ; Haiying HU ; Youming CHEN ; Jinsong CHEN ; Xuejuan XU
Author Information

1. 528000 佛山市第一人民医院内分泌科
Keywords: 17q12 microdeletion syndrome; CRYBB2; Diabetes mellitus; Missense mutation
From: Chinese Journal of Diabetes 2024;32(7):546-548
CountryChina
Language:Chinese
Abstract: 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.