Case Report: New insights about clinical manifestations of patients with genetic variants.

GCK-MODY is a genetic condition characterized by alterations in the gene, which can include several types of inactivating genetic variants - ranging from missense and nonsense variants, and splice site variants, to small and large deletions and insertions in the gene. This disorder primarily affects glucose homeostasis and usually presents in heterozygous individuals. Although GCK-MODY is a well-studied condition, some variant carriers may manifest symptoms that deviate from the typical disease phenotype.

What Do We Know about Neonatal Diabetes caused by Mutations?

Introduction: Neonatal diabetes mellitus (NDM) is characterized by severe hyperglycemia, usually diagnosed in the first few months of an individual's life. It is a genetic disease and one of the main forms of monogenic diabetes. Changes in different genes have already been associated with NDM, including changes in the gene .

Fibromodulin Gene Variants () as Potential Biomarkers for Prostate Cancer and Benign Prostatic Hyperplasia.

By the year 2050, the world's elderly population may increase exponentially, raising the rate of disease characteristic of this group, such as prostate cancer (PCa) and benign prostatic hyperplasia (BPH). Prostate disorders have a multifactorial etiology, especially age and genetic factors. Currently, PCa is the second most frequent neoplasm in the male population worldwide.

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.