Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene

B. Glaser, K. C. Chiu, R. Anker, A. Nestorowicz, H. Landau, H. Ben-Bassat, Z. Shlomai, N. Kaiser, P. S. Thornton, C. A. Stanley, R. S. Spielman, K. Gogolin- Ewens, E. Cerasi, L. Baker, J. Rice, H. Donis-Keller, M. A. Permutt

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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, θ = 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 β-cell dysfunction including non-insulin-dependent diabetes mellitus (NIDDM).

Original languageEnglish
Pages (from-to)185-188
Number of pages4
JournalNature Genetics
Volume7
Issue number2
DOIs
StatePublished - Jun 20 1994

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    Glaser, B., Chiu, K. C., Anker, R., Nestorowicz, A., Landau, H., Ben-Bassat, H., Shlomai, Z., Kaiser, N., Thornton, P. S., Stanley, C. A., Spielman, R. S., Gogolin- Ewens, K., Cerasi, E., Baker, L., Rice, J., Donis-Keller, H., & Permutt, M. A. (1994). Familial hyperinsulinism maps to chromosome 11p14-15.1, 30 cM centromeric to the insulin gene. Nature Genetics, 7(2), 185-188. https://doi.org/10.1038/ng0694-185