hrp0092rfc1.4 | Diabetes and Insulin Session 1 | ESPE2019

Estimation of Mody Frequency and Prevalent Subtypes in Pediatric Patients by Targeted NGS

Salamanca Luis , Kadaoui Maria Al , Guerrero Julio , Carcavilla Atilano , Itza Nerea , Mora Cristina , Barreda Ana Coral , Dominguez Jesús , Vallespín Elena , Pozo Angela Del , Solis Mario , Aragonés Angel , Hermoso Florinda , Ramirez Joaquín , Teresa Muñoz Maria , Garzón Lucía , Rodriguez Amparo , Escribano Arantxa , Gonzalez Isabel , Campos Angel

Though up to fourteen different MODY subtypes have been so far described, there are no studies in the literature which have determined their actual frequency and prevalence in pediatric patients.Objectives: To identify the underlying molecular basis in a cohort of pediatric patients with a suspected clinical diagnosis of MODY by targeted NGS.Materials/Methods: Cohort of 60 patient fulfilling MODY c...