molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome分子诊断新生儿糖尿病使用下一代全外显子组测序.pdfVIP

Molecular Diagnosis of Neonatal Diabetes Mellitus Using Next-Generation Sequencing of the Whole Exome ´ 1 1 1 1 1 Amelie Bonnefond , Emmanuelle Durand , Olivier Sand , Franck De Graeve , Sophie Gallina , Kanetee 2 ´ 1 2 ´ 3 ´ 4 Busiah , Stephane Lobbens , Albane Simon , Christine Bellanne-Chantelot , Louis Letourneau , Raphael 2 ´ ˆ 1 4 2 1 Scharfmann , Jerome Delplanque , Robert Sladek , Michel Polak , Martine Vaxillaire , Philippe Froguel1,5* ´ 1 CNRS-UMR-8199, Univ Lille Nord de France, UDSL, Lille, France, 2 Inserm-U845, Department of Pediatric Endocrinology, Necker Enfants Malades Hospital, Universite Paris ´ ´ ` Descartes, Paris, France, 3 Department of Genetics, Pitie-Salpetriere Hospital, Paris, France, 4 Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, and Genome Quebec Innovation Centre, Montreal, Canada, 5 Department of Genomics of Common Disease, School of Public Health, Imperial College London, Hammersmith Hospital, London, United Kingdom Abstract Background: Accurate molecular diagnosis of monogenic non-autoimmune neonatal diabetes mellitus (NDM) is critical for patient care, as patients carrying a mutation in KCNJ11 or ABCC8 can be treated by oral sulfonylurea drugs instead of insulin therapy. This diagnosis is currently based on S