Sulfonyl-Harnstoffrezeptor der beta-Zellen
Das Gen ABCC8 kodiert den Sulfonylharnstoff-Rezeptor einer regulierenden Komponente des einwärts gerichteten Kaliumkanals. Bei einem Funktionsverlust dieses Proteins kommt es zu einer ständigen Stimulation der Insulinsekretion. Die resultierende hypoglkämischer Hyperinsulinämie ist eine rezessive und seltener eine dominante Erkrankung. Funktionssteigernde Mutationen führen dagegen zu einem permanenten oder transienten neonatalen Diabetes mellitus, welcher autosomal rezessive oder dominant auftreten kann.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Proks P et al. (2006) A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.
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2. |
Ellard S et al. (2007) Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.
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3. |
Magge SN et al. (2004) Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor.
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4. |
Glaser B et al. (1999) Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism.
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5. |
Dunne MJ et al. (1997) Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor.
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6. |
Verkarre V et al. (1998) Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia.
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7. |
Nestorowicz A et al. (1996) Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews.
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8. |
Thomas PM et al. (1996) Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor, and familial persistent hyperinsulinemic hypoglycemia of infancy.
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9. |
Thomas PM et al. (1995) Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy.
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10. |
Tornovsky S et al. (2004) Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity.
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11. |
Thornton PS et al. (2003) Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor.
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12. |
Huopio H et al. (2003) A new subtype of autosomal dominant diabetes attributable to a mutation in the gene for sulfonylurea receptor 1.
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13. |
Huopio H et al. (2000) Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1.
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14. |
Otonkoski T et al. (1999) A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland.
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15. |
Babenko AP et al. (2006) Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.
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16. |
Thornton PS et al. (1998) Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant.
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17. |
OMIM.ORG article
Omim 600509
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18. |
NCBI article
NCBI 6833
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19. |
Orphanet article
Orphanet ID 117665
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Update: 14. August 2020