title: Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene.
abstract: Familial hyperinsulinism (HI) is the most common cause of persistent neonatal hyperinsulinaemic hypoglycemia. Linkage analysis in 15 families (12 Ashkenazi Jewish, 2 consanguineous Arab, 1 non-Jewish Caucasian) mapped HI to chromosome 11p14-15.1 (lod score = 9.5, theta = 0 at D11S921). Recombinants localized the disease locus to the 6.6 cM interval between D11S926 and D11S928. In Jewish families, association (p = 0.003) with specific D11S921/D11S419 haplotypes suggested a founder effect. This locus, which is important for normal glucose-regulated insulin secretion, represents a candidate gene for studies of other diseases of beta-cell dysfunction including non-insulin-dependent diabetes mellitus (NIDDM).
authors.affiliation: Department of Internal Medicine, Washington University School of Medicine, St. Louis, Missouri 63110.
authors.forename: B
authors.initials: B
authors.lastname: Glaser
authors.forename: K C
authors.initials: KC
authors.lastname: Chiu
authors.forename: R
authors.initials: R
authors.lastname: Anker
authors.forename: A
authors.initials: A
authors.lastname: Nestorowicz
authors.forename: H
authors.initials: H
authors.lastname: Landau
authors.forename: H
authors.initials: H
authors.lastname: Ben-Bassat
authors.forename: Z
authors.initials: Z
authors.lastname: Shlomai
authors.forename: N
authors.initials: N
authors.lastname: Kaiser
authors.forename: P S
authors.initials: PS
authors.lastname: Thornton
authors.forename: C A
authors.initials: CA
authors.lastname: Stanley
mesh_terms: D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D005260:Female; D018703:Founder Effect; D008040:Genetic Linkage; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D006946:Hyperinsulinism / Q000235:genetics* / Q000503:physiopathology; D007231:Infant, Newborn; D007328:Insulin / Q000235:genetics* / Q000378:metabolism; D000078790:Insulin Secretion; D007585:Jews / Q000235:genetics; D008297:Male; D010375:Pedigree
chemical_list: D005819:Genetic Markers; D007328:Insulin