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Hyperinsulinism Caused By Paternal-Specific Inheritance Of A Recessive Mutation In The Sulfonylurea-Receptor Gene, Benjamin Glaser, Fergus Ryan, Marc Donath, Heddy Landau, Charles Stanley, Lester Baker, David Barton, Paul Thornton
Hyperinsulinism Caused By Paternal-Specific Inheritance Of A Recessive Mutation In The Sulfonylurea-Receptor Gene, Benjamin Glaser, Fergus Ryan, Marc Donath, Heddy Landau, Charles Stanley, Lester Baker, David Barton, Paul Thornton
Articles
Neonatal hyperinsulinism (HI) is a genetic disorder of pancreatic b-cells characterized by failure to suppress insulin secretion in the presence of hypoglycemia, resulting in brain damage or death if not adequately treated. Germline mutations in four genes have been associated with HI. Some patients have focal regions of b-cell proliferation (focal HI). Seventy HI probands in whom at least one S U R - 1 mutation was identified were studied. Clinical data from patients with two S U R - 1 mutant alleles were compared with those from patients with single paternally inherited mutations. Thirtyseven probands were homozygous or compound …