ABCMdb

PMID: 16380471

Otonkoski T, Nanto-Salonen K, Seppanen M, Veijola R, Huopio H, Hussain K, Tapanainen P, Eskola O, Parkkola R, Ekstrom K, Guiot Y, Rahier J, Laakso M, Rintala R, Nuutila P, Minn H
Noninvasive diagnosis of focal hyperinsulinism of infancy with [18F]-DOPA positron emission tomography.
Diabetes. 2006 Jan;55(1):13-8., [PubMed]

Sentences

No. Mutations Sentence Comment

83 ABCC8 p.Glu1506Lys ABCC8 p.Val187Asp The two previously detected founder mutations SUR1-V187D (5) and SUR1-E1506K (24) were screened by direct sequencing in all Finnish patients. Login to comment 100 ABCC8 p.Val187Asp ABCC8 p.Val187Asp ABCC8 p.Val187Asp ABCC8 p.Val187Asp ABCC8 p.Val187Asp ABCC8 p.Cys418Arg ABCC8 p.Gly1469Val ABCC8 p.Gly92Asp ABCC8 p.Ala113Val ABCC8 p.Ala113Val In one of these (case no. 7), a pancreatic biopsy with diffuse-type pathol- TABLE 1 Clinical and genetic characteristics of the patients, together with the findings in PET scan, pancreatic catheterization, surgery, and histology Patient Age at diagnosis/PET ABCC8 mutation Response to medication Glucose need (mg/kg/min) PET PVS/PACS Surgery/histology 1 Neonatal/6 months V187D (561Tb0e;A) (Paternal) Dzxafa;, Octr af9; 12.3 focal/head focal/head focal resection/posterior neck PAD: focus 6.8 afb; 4 mm 2 4 months/13 months V187D (561Tb0e;A) (Paternal) Dzxafa;, Octr af9; 9.5 focal/body focal/body focal resection/body PAD: focus 5 afb; 4 mm 3 Neonatal/6 months G1469V (4408Gb0e;T) (Paternal) Dzxafa;, Octr af9; 12.7 focal/head focal/head focal resection/head PAD: focus 8 afb; 5 mm 4 Neonatal/3.5 years V187D (561Tb0e;A) (Paternal) Dzxafa;, Octr af9; 12.7 diffuse diffuse* ND 5 Neonatal/6 months A113V (338Cb0e;T) (Paternal) Dzxafa;, Octr af9; 12.7 diffuse diffuse Near-total pancreatectomy PAD: diffuse histology 6 Neonatal/5 years No mutations Dzx af9; 6.5 diffuse diffuse* ND 7 3 months/4 years No mutations Dzx af9; 6.5 diffuse ND Pancreas biopsy PAD: diffuse histology 8 Neonatal/9 months G92D (275Gb0e;A) Dzxafa;, Octr af9; 10.3 diffuse ND Near-total pancreatectomy PAD: diffuse histology 9 Neonatal/1 month V187D (561Tb0e;A) (Paternal) Dzxafa;, Octrafa; 20 focal/head ND focal resection/uncinate process PAD: focus 8 afb; 4 mm 10 Neonatal/2 months No mutations Dzx partial, Octr af9; 6.2 diffuse ND ND 11 5 months/13 months V187D (561Tb0e;A) (Paternal) Dzxafa;, Octr af9; 6.4 diffuse diffuse ND 12 Neonatal/1.5 months G474A (de novo) Dzxafa;, Octr af9; 15.9 diffuse ND Near-total pancreatectomy PAD diffuse; 13 Neonatal/3 months C418R (1252Tb0e;C) (Maternal) Dzxafa;, Octr af9; 26 focal/body ND focal resection/body PAD: focus 10 afb; 6 mm 14 Neonatal/6 months A113V (338Cb0e;T) (Paternal) Dzxafa;, Octr af9; 13 diffuse ND ND The glucose need refers to the glucose infusion rate that was required to maintain normoglycemia at the time of the PET scan. Login to comment 104 ABCC8 p.Val187Asp Genetic analysis showed that five of the patients were paternal heterozygotes for the Finnish major founder ABCC8 mutation V187D (Table 1). Login to comment 105 ABCC8 p.Val187Asp Genetic analysis showed that five of the patients were paternal heterozygotes for the Finnish major founder ABCC8 mutation V187D (Table 1). Login to comment 109 ABCC8 p.Cys418Arg However, in one patient (no. 13), the only mutation identified (C418R) was inherited from the maternal side. Login to comment 110 ABCC8 p.Cys418Arg However, in one patient (no. 13), the only mutation identified (C418R) was inherited from the maternal side. Login to comment 118 ABCC8 p.Val187Asp Representative illustrations of a patient with focal CHI who carries the paternally inherited SUR1-V187D mutation (patient 1, Table 1). Login to comment 119 ABCC8 p.Val187Asp Representative illustrations of a patient with focal CHI who carries the paternally inherited SUR1-V187D mutation (patient 1, Table 1). Login to comment 141 ABCC8 p.Cys418Arg Thus, the mutation C418R was apparently not expressed within the lesion and is likely not of functional importance. Login to comment 142 ABCC8 p.Cys418Arg Thus, the mutation C418R was apparently not expressed within the lesion and is likely not of functional importance. Login to comment