Novella Rapini, Maurizio Delvecchio, Mafalda Mucciolo, Rosario Ruta, Ivana Rabbone, Valentino Cherubini, Stefano Zucchini, Stefano Cianfarani, Elena Prandi, Riccardo Schiaffini, Carla Bizzarri, Barbara Piccini, Giulio Maltoni, Barbara Predieri, Nicola Minuto, Rossella Di Paola, Mara Giordano, Nadia Tinto, Valeria Grasso, Lucia Russo, Valentina Tiberi, Andrea Scaramuzza, Giulio Frontino, Maria Cristina Maggio, Gianluca Musolino, Elvira Piccinno, Davide Tinti, Paola Carrera, Enza Mozzillo, Marco Cappa, Dario Iafusco, Riccardo Bonfanti, Antonio Novelli, Fabrizio Barbetti
CONTEXT: In the last decade Sanger method of DNA sequencing has been replaced by next generation sequencing (NGS). NGS is valuable in conditions characterized by high genetic heterogeneity such as neonatal diabetes mellitus (NDM). OBJECTIVE: To compare results of genetic analysis of patients with NDM and congenital severe insulin resistance (c.SIR) identified in Italy in 2003-2012 (Sanger) versus 2013-2022 (NGS). METHODS: We reviewed clinical and genetic records of 104 cases with diabetes onset before 6 months of age (NDM+c...
February 26, 2024: Journal of Clinical Endocrinology and Metabolism