, Volume 48, Issue 11, pp 2439-2441
Date: 05 Oct 2005

Transient neonatal diabetes mellitus is associated with a recurrent (R201H) KCNJ11 (KIR6.2) mutation

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To the Editor: Neonatal diabetes mellitus (NDM) is a rare, monogenic form of diabetes currently defined as insulin-requiring hyperglycaemia within the first 3 months of life [1]. Neonatal diabetes can be either permanent (PNDM), requiring life-long insulin treatment, or transient (TNDM), the latter usually subsiding within 12 months of onset. In some patients with TNDM a relapse of diabetes can occur during adolescence. Recently, activating mutations of KCNJ11 (previously known as KIR6.2), encoded by the KCNJ11 gene, have been found to result in the permanent form of this condition [2]. In addition, KCNJ11 mutations with a milder effect can also give rise to remitting, relapsing, or transient neonatal diabetes [3]. In this study, the genetic basis of a case of neonatal diabetes with an atypical clinical course was investigated.

The proband (referred to as nd-BA/2) is now 20 years old, and is the only child born to healthy, unrelated parents. She was delivered at term with a weight of 2, ...