Identification of the First PAX4-MODY Family Reported in Brazil.
Gabriella de Medeiros AbreuCamila de Almeida Pereira Dias SoaresRoberta Magalhães TarantinoAna Carolina Proença da FonsecaRitiele Bastos de SouzaMaria de Fátima Carvalho PereiraPedro Hernán Cabello AceroMelanie RodackiLenita ZajdenvergVerônica Marques ZembrzuskiMário Campos JuniorPublished in: Diabetes, metabolic syndrome and obesity : targets and therapy (2020)
To the best of our knowledge, this is the first study to report a PAX4-MODY family in Brazil. The age of PAX4-MODY diagnosis in the Brazilian family seems to be higher than the classical criteria for MODY. Our results reinforce the importance of screening large monogenic diabetes families for the understanding of the clinical manifestations of rare forms of diabetes for the specific and personalized treatment.