Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene.
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).
Glaser
B
B
Department of Internal Medicine, Washington University School of Medicine, St. Louis, Missouri 63110.
Chiu
K C
KC
Anker
R
R
Nestorowicz
A
A
Landau
H
H
Ben-Bassat
H
H
Shlomai
Z
Z
Kaiser
N
N
Thornton
P S
PS
Stanley
C A
CA
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
D005819:Genetic Markers; D007328:Insulin