Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

DEND-Syndrom

Das DEND-Syndrom (developmental delay, epilepsy, and neonatal diabetes mellitus) ist eine Sonderform des permanenten neonatalen Diabetes (PNDM) die durch bestimmte Mutationen des KCNJ11-Gens hervorgerufen wird und durch zusätzliche neurologische Symptomatik, wie geistige Entwicklungsstörungen und Epilepsie gekennzeichnet ist.

Gliederung

Permanenter neonataler Diabetes mellitus
ABCC8
DEND-Syndrom
KCNJ11
GCK
INS
KCNJ11
PDX1

Referenzen:

1.

Njølstad PR et. al. (2001) Neonatal diabetes mellitus due to complete glucokinase deficiency.

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2.

Støy J et al. (2007) Insulin gene mutations as a cause of permanent neonatal diabetes.

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3.

Edghill EL et al. (2008) Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.

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4.

Polak M et al. (2008) Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early infancy: a report from the French ND (Neonatal Diabetes) Study Group.

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5.

Colombo C et al. (2008) Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus.

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6.

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

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7.

Proks P et al. (2006) A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.

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8.

Babenko AP et al. (2006) Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.

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9.

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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10.

Massa O et al. (2005) KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.

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11.

Proks P et al. (2005) A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome.

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12.

Gloyn AL et al. (2006) KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.

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13.

Masia R et al. (2007) An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes.

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14.

Shimomura K et al. (2007) A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.

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15.

Sumnik Z et al. (2007) Sulphonylurea treatment does not improve psychomotor development in children with KCNJ11 mutations causing permanent neonatal diabetes mellitus accompanied by developmental delay and epilepsy (DEND syndrome).

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16.

Mlynarski W et al. (2007) Sulfonylurea improves CNS function in a case of intermediate DEND syndrome caused by a mutation in KCNJ11.

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17.

Koster JC et al. (2008) The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy.

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18.

Slingerland AS et al. (2008) Sulphonylurea therapy improves cognition in a patient with the V59M KCNJ11 mutation.

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19.

Koster JC et al. (2008) DEND mutation in Kir6.2 (KCNJ11) reveals a flexible N-terminal region critical for ATP-sensing of the KATP channel.

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20.

Della Manna T et al. (2008) Glibenclamide unresponsiveness in a Brazilian child with permanent neonatal diabetes mellitus and DEND syndrome due to a C166Y mutation in KCNJ11 (Kir6.2) gene.

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21.

Mohamadi A et al. (2010) Medical and developmental impact of transition from subcutaneous insulin to oral glyburide in a 15-yr-old boy with neonatal diabetes mellitus and intermediate DEND syndrome: extending the age of KCNJ11 mutation testing in neonatal DM.

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22.

Shield JP et al. (2000) Neonatal diabetes: new insights into aetiology and implications.

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23.

Gloyn AL et al. (2002) Complete glucokinase deficiency is not a common cause of permanent neonatal diabetes.

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24.

Zung A et al. (2004) Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2.

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25.

Pearson ER et al. (2006) Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.

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26.

Stanik J et al. (2007) Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers.

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27.

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

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28.

Arthur EI et al. () Transient neonatal diabetes mellitus in a child with invdup(6)(q22q23) of paternal origin.

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