Human Molecular Genetics, Vol 5, 1813-1822, Copyright © 1996 by Oxford University Press
A Nestorowicz, BA Wilson, KP Schoor, H Inoue, B Glaser, H Landau, CA Stanley, PS Thornton, JP Clement 4th, J Bryan, L Aguilar-Bryan and MA Permutt
Familial hyperinsulinism (HI) is a disorder of pancreatic beta-cell
function characterized by persistent hyperinsulinism despite severe
hypoglycemia. To define the molecular genetic basis of HI in Ashkenazi
Jews, 25 probands were screened for mutations in the sulfonylurea receptor
(SUR1) gene by single-strand conformation polymorphism (SSCP) analysis of
genomic DNA and subsequent nucleotide sequence analyses. Two common
mutations were identified: (I) a novel in-frame deletion of three
nucleotides (nt) in exon 34, resulting in deletion of the codon for F1388
(delta F1388) and (II) a previously described g-->a transition at
position-9 of the 3' splice site of intron 32 (designated 3992-9g-->a).
Together, these mutations are associated with 88% of the HI chromosomes of
the patients studied. 86Rb+ efflux measurements of COSm6 cells
co-expressing Kir6.2 and either wild-type or delta F1388 SUR1 revealed that
the F1388 mutation abolished ATP-sensitive potassium channel (KATP)
activity in intact cells. Extended haplotype analyses indicated that the
delta F1388 mutation was associated with a single specific haplotype
whereas the 3992-9g-->a mutation was primarily associated with a single
haplotype but also occurred in the context of several other different
haplotypes. These data suggest that HI in Ashkenazi Jews is predominantly
associated with mutations in the SUR1 gene and provide evidence for the
existence of at least two founder HI chromosomes in this population.
ARTICLES
Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews
Division of Endocrinology, Diabetes and Metabolism, Washington University School of Medicine, St Louis, MO 63110, USA.
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