Prevalence of Maturity-Onset Diabetes of the Young Mutations in Brazilian Families With Autosomal- Dominant Early-Onset Type 2 Diabetes
- Regina S. Moisés, MD, PHD1,
- André F. Reis, MD, PHD12,
- Valérie Morel3,
- Antônio R. Chacra, MD, PHD1,
- Sérgio A. Dib, MD, PHD1,
- Christine Bellanné-Chantelot, PHARMD, PHD3 and
- Gilberto Velho, MD, PHD2
- 1Department of Internal Medicine–Endocrinology, Federal University of São Paulo (UNIFESP), São Paulo, Brazil
- 2INSERM Unité 342, Paris, France
- 3Fondation Jean-Dausset–CEPH, Paris, France
The relative frequencies of the subtypes of maturity-onset diabetes of the young (MODY) were shown to vary greatly in studies from different populations (1–4). The Brazilian population has mixed ethnic background (African, Asian, European-Caucasian of several different countries of origin, and Indigenous), and little is known about the genetic determinants of diabetes in Brazilians. In this report, we describe the frequencies of the major MODY subtypes in a panel of 12 Brazilian families with autosomal-dominant early-onset type 2 diabetes (Fig. 1).
A total of 32 family members were studied. The age at diagnosis of diabetes was <25 years in at least one family member in 10 of the 12 families and was between 30 and 35 years in the two remaining families. The probands were five men and seven women with overt diabetes according to the revised criteria, aged 34 ± 18 years (mean ± SD), with age of diagnosis of 24 ± 13 years (range 8–50). The promoter and the coding regions of glucokinase (GCK/MODY2), hepatocyte nuclear …
