Insulin promoter factor 1 gene is not a major cause of maturity-onset diabetes of the young in French Caucasians.

Abstract

Maturity-onset diabetes of the young (MODY) is a heterogeneous subtype of NIDDM characterized by early onset (usually before age 25 years), autosomal-dominant inheritance, and a primary defect in insulin secretion (1,2). To date, three MODY genes have been identified: hepatocyte nuclear factor4 (H N F - 4 / M O D Y 1), glucokinase (G C K / M O D Y 2), and hepatocyte nuclear factor-1 (H N F 1 / M O D Y 3) on chromosomes 20q, 7p, and 12q, respectively (3‐5). Investigation of 67 MODY pedigrees collected in France showed that 63% (42 families) have G C K / M O D Y 2 subtype and 21% (14 families) have H N F 1 / M O D Y 3 subtype (4,6,7). However, linkage and mutation searches in the 11 remaining MODY pedigrees did not give evidence for a pathogenic role of the three known MODY loci, implying that at least one additional MODY locus is associated with MODY (14; J.-C.C., unpublished observa