PMID: 21411514

Powell PD, Bellanne-Chantelot C, Flanagan SE, Ellard S, Rooman R, Hussain K, Skae M, Clayton P, de Lonlay P, Dunne MJ, Cosgrove KE
In vitro recovery of ATP-sensitive potassium channels in beta-cells from patients with congenital hyperinsulinism of infancy.
Diabetes. 2011 Apr;60(4):1223-8. Epub 2011 Mar 16., [PubMed]
Sentences
No. Mutations Sentence Comment
64 ABCC8 p.Gly70Glu
X
ABCC8 p.Gly70Glu 21411514:64:453
status: NEW
view ABCC8 p.Gly70Glu details
 The TABLE 1 CHI patient tissue details Patient (#) Age at surgery Histology Gene defect Genotype Reference 1 10 weeks Diffuse Presumed Homozygous, ABCC8 Unknown - 2 12 weeks Diffuse Homozygous, ABCC8 c.1467+5G.A Novel mutation 3 12 weeks Diffuse Compound Heterozygous, ABCC8 p.Arg998X/p.Ser1449dup 25 4 12 weeks Diffuse Homozygous, ABCC8 c.3992-9G.A 3 5 7 weeks Diffuse Homozygous, ABCC8 c.3992-9G.A 3 6 3.5 years Diffuse Compound Heterozygous, ABCC8 p.Gly70Glu/p.Arg1419Gly 3 7 12 months Diffuse Compound Heterozygous, ABCC8 p.Lys242fs/p.Arg1437X Novel mutations 8 4 weeks Focal Paternal uniparental isodisomy, ABCC8 p.Arg598X 3 Seven patients were found to have diffuse CHI, and one patient was defined as focal CHI. Login to comment