Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene

2.50
Hdl Handle:
http://hdl.handle.net/11287/592674
Title:
Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene
Authors:
Zegre Amorim, M; Houghton, Jayne A. L.; Carmo, S; Salva, I; Pita, A; Pereira-da-Silva, L
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.
Citation:
Mitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene 2015, 2015:1 Case Reports in Genetics
Publisher:
Hindawi
Journal:
Case Reports in Genetics
Issue Date:
24-Nov-2015
URI:
http://hdl.handle.net/11287/592674
DOI:
10.1155/2015/937201
PubMed ID:
26770845
Additional Links:
http://www.hindawi.com/journals/crig/2015/937201/
Note:
This article is freely available via Open Access, click on the Additional Link above to access the full-text.
Type:
Case Report
Language:
en
Description:
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.
ISSN:
2090-6544; 2090-6552
Appears in Collections:
2015 RD&E publications; Clinical Genetics (Peninsula Genetics)

Full metadata record

DC FieldValue Language
dc.contributor.authorZegre Amorim, Men
dc.contributor.authorHoughton, Jayne A. L.en
dc.contributor.authorCarmo, Sen
dc.contributor.authorSalva, Ien
dc.contributor.authorPita, Aen
dc.contributor.authorPereira-da-Silva, Len
dc.date.accessioned2015-12-31T12:28:51Zen
dc.date.available2015-12-31T12:28:51Zen
dc.date.issued2015-11-24en
dc.identifier.citationMitchell-Riley Syndrome: A Novel Mutation in RFX6 Gene 2015, 2015:1 Case Reports in Geneticsen
dc.identifier.issn2090-6544en
dc.identifier.issn2090-6552en
dc.identifier.pmid26770845en
dc.identifier.doi10.1155/2015/937201en
dc.identifier.urihttp://hdl.handle.net/11287/592674en
dc.descriptionThis 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.en
dc.description.abstractA 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.en
dc.language.isoenen
dc.publisherHindawien
dc.relation.urlhttp://www.hindawi.com/journals/crig/2015/937201/en
dc.rightsArchived with thanks to Case Reports in Geneticsen
dc.titleMitchell-Riley Syndrome: A Novel Mutation in RFX6 Geneen
dc.typeCase Reporten
dc.identifier.journalCase Reports in Geneticsen
dc.description.noteThis article is freely available via Open Access, click on the Additional Link above to access the full-text.en
dc.type.versionPublisheden

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