Klinik: 

Definition: Der transiente neonatale Diabetes mellitus 3 ist eine autosomal dominante Erkrankung die durch bestimmte aktivierende Mutationen des KCNJ11-Gens ausgelöst wird.

Literatur: 

Colombo C et al. (2005) Transient neonatal diabetes mellitus is associated with a recurrent (R201H) KCNJ11 (KIR6.2) mutation.
Edghill EL et al. (2007) Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings.
Gloyn AL et al. (2004) Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.
Gloyn AL et al. (2005) Relapsing diabetes can result from moderately activating mutations in KCNJ11.
Suzuki S et al. (2007) Molecular basis of neonatal diabetes in Japanese patients.
Yorifuji T et al. (2005) 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.