Two new mutations in the CEL gene causing diabetes and hereditary pancreatitis: How to correctly identify MODY8 cases.

Khadija El JellasPetra DušátkováIngfrid S HaldorsenJanne MolnesErling TjoraBente B JohanssonKarianne FjeldStefan E JohanssonŠtěpánka PrůhováLeif C GroopJ-Matthias LöhrPal Rasmus Njolstad Anders Molven

Published in: The Journal of clinical endocrinology and metabolism (2021)

The diagnosis of MODY8 requires a pancreatic exocrine phenotype and a deletion in the CEL VNTR in addition to dominantly inherited diabetes. CEL screening may be warranted also in families with hereditary pancreatitis of unknown genetic etiology.

Keyphrases

type diabetes
cardiovascular disease
glycemic control
genome wide
copy number
dna methylation
gene expression
weight loss