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Case Reports in Genetics
Volume 2015, Article ID 937201, 3 pages
http://dx.doi.org/10.1155/2015/937201
Case Report

Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene

1Genetics Department, Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central, 1169-045 Lisbon, Portugal
2Royal Devon and Exeter Hospital, Exeter, Devon EX2 5DW, UK
3Pediatric Surgery Department, Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central, 1169-045 Lisbon, Portugal
4NICU, Hospital Dona Estefânia, Centro Hospitalar de Lisboa Central, 1169-045 Lisbon, Portugal

Received 19 August 2015; Revised 22 November 2015; Accepted 24 November 2015

Academic Editor: Philip D. Cotter

Copyright © 2015 Marta Zegre Amorim et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.