Neonatal diabetes mellitus (NDM), which is a monogenic form of diabetes, is a heterogeneous group of disorders characterized by hyperglycemia in the first 6 months of life. NDM is categorized into transient (TNDM) and permanent (PNDM). TNDM is a developmental disorder of insulin production that resolves by age 18 months but can reappear later in life. TNDM is different from type 1 diabetes since no islet cell antibodies or autoimmune phenomenon were found in these patients. 6q24-related TNDM is an imprinting disorder resulting from overexpression of at least two imprinted genes, PLAGL1 and HYMAI, on chromosome 6q24. Hypomethylation of multiple imprinted loci is associated with mutations in ZFP57. Mutations in ABCC8 and KCNJ11 encoding Kir6.2 and SUR1 are other genetic causes of TNDM.
Yorifuji T, Nagashima K, Kurokawa K, Kawai M, Oishi M, Akazawa Y, Hosokawa M, Yamada Y, Inagaki N, Nakahata T
タイトル
The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus.
