Ontology highlight
ABSTRACT:
SUBMITTER: Sifuentes-Dominguez LF
PROVIDER: S-EPMC6839920 | biostudies-literature | 2019 Oct
REPOSITORIES: biostudies-literature
eLife 20191030
Inflammatory bowel disease (IBD) affects 1.5-3.0 million people in the United States. IBD is genetically determined and many common risk alleles have been identified. Yet, a large proportion of genetic predisposition remains unexplained. In this study, we report the identification of an ultr arare missense variant (NM_006998.3:c.230G > A;p.Arg77His) in the <i>SCGN</i> gene causing Mendelian early-onset ulcerative colitis. <i>SCGN</i> encodes a calcium sensor that is exclusively expressed in neur ...[more]