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.
Conference: 13th Annual ENETS conference 2016 (2016)
Category: Basic Science - Genetics, epigenetics, miRNAs
Presenting Author: Dr. Laura Tang
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