hrp0086fc9.2 | Pathophysiology of Disorders of Insulin Secretion | ESPE2016

NBAS Mutations, a New Monogenic Cause of DISOPHAL, a New Syndrome with Type 1 Diabetes (T1D)

Rothenbuhler Anya , Maluenda Jerome , Aumont Cedric , Picard Veronique , Bougneres Pierre , Melki Judith

Background: While non-autoimmune T1D is rare in late childhood, few monogenic causes have yet been identified.Objective: 1) to identify the genetic basis of the yet unreported disease phenotype associating late childhood antibody-negative T1D, short stature, optic atrophy (OA), Pelger-Huët anomaly (PHA) of leukocytes and recurrent liver cytolysis: the “DISOPHAL” syndrome; 2) to attract comparable cases for further genetic investigation.</p...