Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy

Am J Hum Genet. 1995 Feb;56(2):416-21.


Familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI) is a rare, autosomal recessive disease of unregulated insulin secretion, defined by elevations in serum insulin despite severe hypoglycemia. We used the homozygosity gene-mapping strategy to localize this disorder to the region of chromosome 11p between markers D11S1334 and D11S899 (maximum LOD score 5.02 [theta = 0] at marker D11S926) in five consanguineous families of Saudi Arabian origin. These results extend those of a recent report that also placed PHHI on chromosome 11p, between markers D11S926 and D11S928. Comparison of the boundaries of these two overlapping regions allows the PHHI locus to be assigned to the 4-cM region between the markers D11S926 and D11S899. Identification of this gene may allow a better understanding of other disorders of glucose homeostasis, by providing insight into the regulation of insulin release.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 11*
  • Female
  • Genes, Recessive
  • Genetic Linkage
  • Genetic Markers
  • Haplotypes
  • Homozygote
  • Humans
  • Hyperinsulinism / physiopathology
  • Hypoglycemia / physiopathology
  • Infant, Newborn
  • Insulin / metabolism
  • Insulin Secretion
  • Islets of Langerhans / embryology
  • Lod Score
  • Male
  • Pancreatic Diseases / congenital
  • Pancreatic Diseases / genetics*
  • Pancreatic Diseases / physiopathology
  • Saudi Arabia


  • Genetic Markers
  • Insulin