Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene. (3rd December 2015)

• Record Type: Journal Article
• Authors: Zegre Amorim, Marta; Houghton, Jayne A. L.; Carmo, Sara; Salva, Inês; Pita, Ana; Pereira-da-Silva, Luis
• Other Names: Cotter Philip D. Academic Editor.
• Is Part Of: Case reports in genetics. Volume 2015(2015)
• Publication Date: 2015-12-03
• Subjects: Genetics -- Periodicals; Genetics -- Case studies -- Periodicals; Genetics; Genetic Phenomena; Genetics; Periodicals; Case studies; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 576.5
• DOI: 10.1155/2015/937201
• Languages: English
• ISSNs: 2090-6544

Abstract

Abstract : A novel RFX6 homozygous missense mutation was identified in an infant with Mitchell-Riley syndrome. The most common features of Mitchell-Riley syndrome were present, including severe neonatal diabetes associated with annular pancreas, intestinal malrotation, gallbladder agenesis, cholestatic disease, chronic diarrhea, and severe intrauterine growth restriction. Perijejunal tissue similar to pancreatic tissue was found in the submucosa, a finding that has not been previously reported in this syndrome. This case associating RFX6 mutation with structural and functional pancreatic abnormalities reinforces the RFX6 gene role in pancreas development and β -cell function, adding information to the existent mutation databases.