Mutations in the sulfonylurea receptor genein familial persistent hyperinsulinemic hypoglycemia of infancy

Pamela M. Thomas, Gilbert Cote, Nelson Wohllk, Bassem Haddad, P. M. Mathew, Wolfgang Rabl, Lydia Aguilar-Bryan, Robert F Gagel, Joseph Bryan

Research output: Contribution to journalArticle

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Abstract

Familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion, is linked to chromosome 11p14-15.1. The newly cloned high-affinity sulfonylurea receptor (SUR) gene, a regulator of insulin secretion, was mapped to 11p15.1 by means of fluorescence in situ hybridization. Two separate SUR gene splice site mutations, which segregated with disease phenotype, were identified in affected individuals from nine different families. Both mutations resulted in aberrant processing of the RNA sequence and disruption of the putative second nucleotide binding domain of the SUR protein. Abnormal insulin secretion in PHHI appears to be caused by mutations in the SUR gene.

Original languageEnglish (US)
Pages (from-to)426-429
Number of pages4
JournalScience
Volume268
Issue number5209
DOIs
StatePublished - Jan 1 1995

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Congenital Hyperinsulinism
Sulfonylurea Receptors
Mutation
Insulin
Regulator Genes
Fluorescence In Situ Hybridization
Genes
Nucleotides
Chromosomes
Phenotype
Proteins

ASJC Scopus subject areas

  • General

Cite this

Thomas, P. M., Cote, G., Wohllk, N., Haddad, B., Mathew, P. M., Rabl, W., ... Bryan, J. (1995). Mutations in the sulfonylurea receptor genein familial persistent hyperinsulinemic hypoglycemia of infancy. Science, 268(5209), 426-429. https://doi.org/10.1126/science.7716548

Mutations in the sulfonylurea receptor genein familial persistent hyperinsulinemic hypoglycemia of infancy. / Thomas, Pamela M.; Cote, Gilbert; Wohllk, Nelson; Haddad, Bassem; Mathew, P. M.; Rabl, Wolfgang; Aguilar-Bryan, Lydia; Gagel, Robert F; Bryan, Joseph.

In: Science, Vol. 268, No. 5209, 01.01.1995, p. 426-429.

Research output: Contribution to journalArticle

Thomas, PM, Cote, G, Wohllk, N, Haddad, B, Mathew, PM, Rabl, W, Aguilar-Bryan, L, Gagel, RF & Bryan, J 1995, 'Mutations in the sulfonylurea receptor genein familial persistent hyperinsulinemic hypoglycemia of infancy', Science, vol. 268, no. 5209, pp. 426-429. https://doi.org/10.1126/science.7716548
Thomas, Pamela M. ; Cote, Gilbert ; Wohllk, Nelson ; Haddad, Bassem ; Mathew, P. M. ; Rabl, Wolfgang ; Aguilar-Bryan, Lydia ; Gagel, Robert F ; Bryan, Joseph. / Mutations in the sulfonylurea receptor genein familial persistent hyperinsulinemic hypoglycemia of infancy. In: Science. 1995 ; Vol. 268, No. 5209. pp. 426-429.
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