ESPE2016 Free Communications Pathophysiology of Disorders of Insulin Secretion (6 abstracts)
NBAS Mutations, a New Monogenic Cause of DISOPHAL, a New Syndrome with Type 1 Diabetes (T1D)
Anya Rothenbuhler a , Jérôme Maluenda b , Cédric Aumont c , Véronique Picard c , Pierre Bougnères a, & Judith Melki b
aPediatric Endocrinology, Bicêtre, France; bU1169Inserm, Bicêtre, France; cHematobiology, Bicêtre, France; dCentro Nacional Analisis Genomico, Barcelona, Spain
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.
Method: Whole-exome sequencing combined with genetic mapping of disease loci.
Results: Compound heterozygous mutations of neuroblastoma amplified sequence (NBAS) were found in three siblings of the same African family who had late childhood antibody-negative insulin-requiring T1D associated with dwarfism, OA, PHA and recurrent episodes of liver cytolysis.
Conclusion: NBAS is a new gene associated with non-autoimmune T1D. NBAS mutations have been reported before in non-diabetic patients with dwarfism, OA and PHA (“SOPH” syndrome) or a separate disorder of recurrent liver failure (“RALF” syndrome). NBAS mutations can induce a wide and heterogeneous clinical spectrum, which showed its complete form in our patients.
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