Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Developmental delay, epilepsy, and neonatal diabetes

DEND syndrome (developmental delay, epilepsy, and neonatal diabetes mellitus) is a dominant disorder and a special form of permanent neonatal diabetes mellitus (PNDM) caused by specific KCNJ11 mutations. It is characterized by additional neurological symptoms as delayed cognitive development and epilepsy.

Systematic

Permanent neonatal diabetes mellitus
ABCC8
Developmental delay, epilepsy, and neonatal diabetes
KCNJ11
GCK
INS
KCNJ11
Phosphoribosylpyrophosphate synthetase superactivity
Wolcott-Rallison syndrome

References:

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.

None (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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29.

OMIM.ORG article

Omim 606176 [^]
30.

Orphanet article

Orphanet ID 79134 [^]
Update: May 9, 2019