Hyperinsulinism: molecular aetiology of focal disease.
Persistent hypoglycaemia in infancy is most commonly caused by hyperinsulinism. A case is reported of the somatic loss of the maternal 11p in an insulin secreting focal adenoma in association with a germline SUR-1 mutation on the paternal allele in a baby boy with hyperinsulinism diagnosed at 49 days old. A reduction to homozygosity of an SUR-1 mutation is proposed as a critical part of the cause of focal hyperinsulinism.
Ryan
F
F
Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland.
Devaney
D
D
Joyce
C
C
Nestorowicz
A
A
Permutt
M A
MA
Glaser
B
B
Barton
D E
DE
Thornton
P S
PS
D018528:ATP-Binding Cassette Transporters; D007516:Adenoma, Islet Cell / Q000235:genetics; D002880:Chromosomes, Human, Pair 11; D018095:Germ-Line Mutation; D006801:Humans; D006946:Hyperinsulinism / Q000235:genetics*; D007223:Infant; D007328:Insulin / Q000378:metabolism; D000078790:Insulin Secretion; D008297:Male; D010190:Pancreatic Neoplasms / Q000235:genetics; D015221:Potassium Channels / Q000235:genetics*; D024661:Potassium Channels, Inwardly Rectifying; D011955:Receptors, Drug / Q000235:genetics*; D013453:Sulfonylurea Compounds; D064233:Sulfonylurea Receptors
C577507:ABCC8 protein, human; D018528:ATP-Binding Cassette Transporters; D007328:Insulin; D015221:Potassium Channels; D024661:Potassium Channels, Inwardly Rectifying; D011955:Receptors, Drug; D013453:Sulfonylurea Compounds; D064233:Sulfonylurea Receptors