Kant S G, van der Weij A M, Oostdijk W, Wit J M, Robinson D O, Temple I K, Mackay D J G
Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Hum Genet. 2005 Aug;117(4):398-401. doi: 10.1007/s00439-005-1304-1. Epub 2005 May 28.
Transient neonatal diabetes mellitus (TNDM) is associated with paternal over-expression of an imprinted locus on chromosome 6q24, which contains one differentially methylated region (DMR); maternal demethylation at the DMR accounts for approximately 20% of cases. Here we report female monozygous triplets, two of whom have TNDM arising from loss of maternal methylation within the TNDM DMR.
短暂性新生儿糖尿病（TNDM）与6号染色体6q24上一个印记位点的父源过表达相关，该位点包含一个差异甲基化区域（DMR）；约20%的病例是由DMR处的母源去甲基化引起的。在此，我们报告了女性单卵三胞胎，其中两个患有TNDM，病因是TNDM DMR内母源甲基化缺失。
