Familial hyperinsulinism maps to chromosome 11 p14-15.1, 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

Familial hyperinsulinism maps to chromosome 11 p14-15.1, 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 = O 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 language	English
Pages (from-to)	185-188
Number of pages	4
Journal	Nature Genetics
Volume	7
Issue number	2
State	Published - Jun 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 11 p14-15.1, 30 cM centromeric to the insulin gene. Nature Genetics, 7(2), 185-188.

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

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 = O 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).",

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

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T1 - Familial hyperinsulinism maps to chromosome 11 p14-15.1, 30 cM centromeric to the insulin gene

AU - Glaser, B.

AU - Chiu, K. C.

AU - Anker, R.

AU - Nestorowicz, A.

AU - Landau, H.

AU - Ben-Bassat, H.

AU - Shlomai, Z.

AU - Kaiser, N.

AU - Thornton, P. S.

AU - Stanley, C. A.

AU - Spielman, R. S.

AU - Gogolin- Ewens, K.

AU - Cerasi, E.

AU - Baker, L.

AU - Rice, J.

AU - Donis-Keller, H.

AU - Permutt, M. A.

PY - 1994/6

Y1 - 1994/6

N2 - 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 = O 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).

AB - 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 = O 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).

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SN - 1061-4036

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JO - Nature Genetics

JF - Nature Genetics

IS - 2

ER -

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

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