PMID: 22572128May 11, 2012Paper

Whole exome sequencing identifies multiple, complex etiologies in an idiopathic hereditary pancreatitis kindred.

JOP : Journal of the Pancreas
Jessica LaRuschDavid C Whitcomb

Abstract

Hereditary pancreatitis is the early onset form of chronic pancreatitis that is carried in an autosomal dominant pattern with variable penetrance. While 80% of hereditary pancreatitis has been shown to be due to a single mutation in the trypsinogen gene PRSS1, a number of hereditary pancreatitis families have no identified genetic cause for illness; thus no reliable screening options or clear therapy. To explore the use of massive parallel DNA sequencing technology to discover the etiology of pancreatitis in a family with idiopathic hereditary pancreatitis. Candidate gene screening and verification within a kindred. Prospective cohort study, university based. Kindred with idiopathic hereditary pancreatitis. None. Identification of DNA variants predicted to increase susceptibility to pancreatitis. Whole exome sequencing of two distantly related subjects with variant-specific confirmation in the subjects and other family members. We identified three deleterious genetic changes in the three major pancreatitis associated genes (PRSS1 CNV, SPINK1 c.27delC and CFTR R117H), two of which were carried by each patient. Individual targeted assays confirmed these variations in the two whole exome sequencing patients as well as affected and...Continue Reading

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