Einwärts gerichteter Kalium-Kanal, Subfamilie J, Typ 11
Das Protein, welches von diesem Gen kodiert wird, ist ein Kaliumkanal, der für die Steuerung der Insulinsekretion in den pankreatischen Betazellen verantwortlich ist. Bei loss-of-function Mutationen kommt es zu einer autosomal rezessiven oder seltener dominanten hyperinsulinämischen Hypoklykämie. Dagegen führen aktivitätssteigernde Mutationen zu einem autosomal dominantem permanenten neonatalen oder jugendlichen (MODY13) Diabetes mellitus, der gelegentlich mit neurologischen Symptomen vergesellschaftet sein kann und dann als DEND-Syndrom bezeichnet wird.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
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2. |
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3. |
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7. |
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8. |
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9. |
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13. |
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14. |
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15. |
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16. |
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17. |
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18. |
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19. |
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20. |
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21. |
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22. |
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23. |
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24. |
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25. |
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26. |
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27. |
Hansen SK et al. (2005) Analysis of separate and combined effects of common variation in KCNJ11 and PPARG on risk of type 2 diabetes.
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32. |
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33. |
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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34. |
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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35. |
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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36. |
Shimomura K et al. (2007) A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.
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37. |
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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38. |
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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39. |
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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40. |
Slingerland AS et al. (2008) Sulphonylurea therapy improves cognition in a patient with the V59M KCNJ11 mutation.
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41. |
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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42. |
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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43. |
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44. |
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45. |
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46. |
de Lonlay P et al. (1997) Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy.
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47. |
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48. |
NCBI article
NCBI 3767
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49. |
OMIM.ORG article
Omim 600937
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50. |
Orphanet article
Orphanet ID 122787
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Update: 14. August 2020