Department of Endocrinology, Genetics and Metabolism, National Center for Children's Health, China, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Diabet Med. 2017 Dec;34(12):1800-1804. doi: 10.1111/dme.13530.
Methylation defects at chromosome 6q24 usually induce transient neonatal diabetes mellitus. There are few reports of permanent neonatal diabetes mellitus caused by abnormalities of 6q24. We report the first case of permanent neonatal diabetes mellitus to be associated with confirmed methylation defects at chromosome 6q24.
A baby girl, small for her gestational age, was found to have high blood glucose 1 day after birth, with no systematic congenital anomalies. She showed no remission of diabetes and has hitherto been reliant on insulin (now aged of 5.5 years), which supports a diagnosis of permanent neonatal diabetes mellitus. The single nucleotide polymorphism array and highly polymorphic short tandem repeat analysis identified paternal uniparental disomy of chromosome 6, and a genome-wide analysis ruled out mutations in coding and non-coding regions.
This report expands the varieties of neonatal diabetes known to be induced by methylation defects at chromosome 6q24, and suggests that the diagnostic evaluation of permanent neonatal diabetes mellitus should be expanded to include testing for 6q24.
6q24 染色体的甲基化缺陷通常会导致短暂性新生儿糖尿病。由 6q24 异常引起的永久性新生儿糖尿病的报道较少。我们报告首例与染色体 6q24 甲基化缺陷相关的永久性新生儿糖尿病。
一名女婴，胎龄较小，出生后第 1 天发现血糖升高，无系统先天性异常。她的糖尿病没有缓解，迄今一直依赖胰岛素（现 5.5 岁），支持永久性新生儿糖尿病的诊断。单核苷酸多态性微阵列和高度多态性短串联重复分析确定了 6 号染色体单亲二体性，全基因组分析排除了编码和非编码区的突变。
本报告扩展了已知由染色体 6q24 甲基化缺陷引起的新生儿糖尿病的种类，并提示对永久性新生儿糖尿病的诊断评估应扩大到包括 6q24 的检测。
