Identification of Variants Responsible for Monogenic Forms of Diabetes in Brazil.

Monogenic forms of diabetes mellitus may affect a significant number of patients of this disease, and it is an important molecular cause to be investigated. However, studies of the genetic causes of monogenic diabetes, especially in populations with mixed ethnic backgrounds, such as the one in Brazil, are scarce. The aim of this study was to screen several genes associated with monogenic diabetes in fifty-seven Brazilian patients with recurrence of the disease in their families and thirty-four relatives.

Identification of the First PAX4-MODY Family Reported in Brazil.

Purpose: The aim of this study was to sequence the coding region of the gene in a Brazilian cohort with clinical manifestations of monogenic diabetes.

Patients And Methods: This study included 31 patients with autosomal dominant history of diabetes, age at diagnosis ≤40 years, BMI <30 kg/m, and no mutations in or , and . Screening of the coding region was performed by Sanger sequencing.