Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Transienter neonataler Diabetes mellitus 3

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

Gliederung

Neonataler Diabetes mellitus
Mitchell-Riley-Syndrom
Neonataler Diabetes mellitus mit angeborener Hypothyreose
Permanenter neonataler Diabetes mellitus
Transienter neonataler Diabetes mellitus 1
Transienter neonataler Diabetes mellitus 2
Transienter neonataler Diabetes mellitus 3
KCNJ11

Referenzen:

1.

Suzuki S et al. (2007) Molecular basis of neonatal diabetes in Japanese patients.

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2.

Gloyn AL et al. (2004) Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.

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3.

Gloyn AL et al. (2005) Relapsing diabetes can result from moderately activating mutations in KCNJ11.

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4.

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.

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5.

Colombo C et al. (2005) Transient neonatal diabetes mellitus is associated with a recurrent (R201H) KCNJ11 (KIR6.2) mutation.

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6.

Edghill EL et al. (2007) Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings.

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