Division of Pediatric Endocrinology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Indian Pediatr. 2012 Jun;49(6):486-8. doi: 10.1007/s13312-012-0093-6.
Most cases of permanent form of neonatal diabetes mellitus (PNDM) are due to dominant heterozygous gain of function (activating) mutations in either KCNJ11 or ABCC8 genes, that code for Kir 6.2 and SUR1 subunits, respectively of the pancreatic b cell KATP channel. We describe the interesting case of an infant with PNDM, in whom a compound heterozygous activating/ inactivating mutation was found with clinically unaffected parents, each carrying a heterozygous mutation in ABCC8, one predicting gain of function (neonatal diabetes) and the other a loss of function (hyperinsulinemia).
大多数新生儿糖尿病的永久形式（PNDM）是由于编码胰腺β细胞 KATP 通道 Kir 6.2 和 SUR1 亚基的 KCNJ11 或 ABCC8 基因的显性杂合获得性功能（激活）突变引起的。我们描述了一名患有 PNDM 的婴儿的有趣病例，其父母临床表现正常，均携带 ABCC8 的杂合突变，其中一个突变预测为获得性功能（新生儿糖尿病），另一个为失功能（高胰岛素血症）。
