Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 20
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Hyperinsulinämische Hypoglycämie 1
ABCC8
Permanenter neonataler Diabetes mellitus
ABCC8
DEND-Syndrom
KCNJ11
GCK
INS
KCNJ11
Phosphoribosylpyrophosphat-Synthetase-Überaktivität
PRPS1
Wolcott-Rallison-Syndrom
EIF2AK3
Transienter neonataler Diabetes mellitus 2
ABCC8
MODY12 Diabetes
ABCC8

Referenzen:

1.

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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2.

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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3.

Glaser B et. al. (1999) Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism.

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4.

Huopio H et. al. (2000) Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1.

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5.

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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6.

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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7.

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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8.

Tornovsky S et. al. (2004) Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity.

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9.

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

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10.

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

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11.

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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12.

Thomas PM et. al. (1995) Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy.

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13.

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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14.

Nestorowicz A et. al. (1996) Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews.

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15.

Dunne MJ et. al. (1997) Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor.

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16.

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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