A Novel Hereditary Pancreatic Neuroendocrine Tumor Syndrome Associated with Biallelic Inactivation of the Glucagon Receptor Abstract #1253

Introduction: Hereditary pancreatic neuroendocrine tumors (PanNETs) are associated with 4 known autosomal dominant syndromes including MEN1, vHL disease, NF1, and TS. Glucagon receptor (GCGR) inactivation in human (Mahvash disease) has been associated with asymptomatic hyperglucagonemia, α-cell hyperplasia, and PanNET, and may represent a new hereditary syndrome.

Aim(s): We identified an index case with suspected Mahvash disease (MD) and collected information from 44 family members in 4 generations and genotyped the GCGR in 10 family members.

Materials and methods: The mutant GCGR transcriptions in were evaluated by mRNA/cDNA sequencing.

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