Identification of Glucokinase Mutations in Subjects With Gestational Diabetes Mellitus

Author:

Stoffel Markus1,Bell Katherine L1,Blackburn Christine L1,Powell Keesha L1,Seo Tracy S1,Takeda Jun1,Vionnet Nathalie1,Xiang Kun-San1,Gidh-Jain Madhavi1,Pilkis Simon J1,Ober Carole1,Bell Graeme I1

Affiliation:

1. Howard Hughes Medical Institute and the Departments of Biochemistry and Molecular Biology, Medicine and Obstetrics and Gynecology, The University of Chicago Chicago, Illinois Department of Physiology and Biophysics, State University of New York Stony Brook, New York.

Abstract

Recent studies have shown that mutations in the glucokinase gene on chromosome 7 can cause an autosomal dominant form of NIDDM with a variable clinical phenotype and onset during childhood. The variable clinical phenotype includes mild fasting hyperglycemia (i.e., a plasma glucose value of > 110 mg/dl, a value that is at least 2–3 SDs above normal), impaired glucose tolerance, gestational diabetes mellitus, as well as overt NIDDM as defined using National Diabetes Data Group or World Health Organization criteria. Because gestational diabetes mellitus was a clinical feature associated with glucokinase mutations, we have screened a group of women with gestational diabetes who also had a first-degree relative with diabetes mellitus for the presence of mutations in this gene. Among 40 subjects, we identified two mutations, suggesting a prevalence of ∼5% in this group. Extrapolating from this result, the prevalence of glucokinase-deficient NIDDM among Americans may be ∼1 in 2500.

Publisher

American Diabetes Association

Subject

Endocrinology, Diabetes and Metabolism,Internal Medicine

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